Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

The metabolic and molecular bases of inherited disease

Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928 · see citing works

Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs

Kozak, M. (1984) · Nucleic Acids Research · doi:10.1093/nar/12.2.857 · Cited by 3,293 · see citing works

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Shapiro, M. B., & Senapathy, P. (1987) · Nucleic Acids Research · doi:10.1093/nar/15.17.7155 · Cited by 2,313 · see citing works

The ancient regulatory-protein family of WD-repeat proteins

Neer, E. J., Schmidt, C. J., Nambudripad, R., & Smith, T. F. (1994) · Nature · doi:10.1038/371297a0 · Cited by 1,491 · see citing works

Frameshift Mutations and the Genetic Code

Streisinger, G., Okada, Y., Emrich, J., Newton, J., Tsugita, A., Terzaghi, E., & Inouye, M. (1966) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.1966.031.01.014 · Cited by 1,400 · see citing works

The WD repeat: a common architecture for diverse functions

Smith, T. F., Gaitatzes, C. G., Saxena, K., & Neer, E. J. (1999) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(99)01384-5 · Cited by 1,256 · see citing works

The structure of the G protein heterotrimer Giα1β1γ2

Wall, M. A., Coleman, D. E., Lee, E. N., Iñiguez-Lluhı́, J. A., Posner, B. A., Gilman, A. G., & Sprang, S. R. (1995) · Cell · doi:10.1016/0092-8674(95)90220-1 · Cited by 1,134 · see citing works

A conserved tripeptide sorts proteins to peroxisomes.

Gould, S. J., Keller, G. A., Hosken, N. A., Wilkinson, J. Q., & Subramani, S. E. (1989) · The Journal of Cell Biology · doi:10.1083/jcb.108.5.1657 · Cited by 1,107 · see citing works

Crystal structure of a GA protein βγdimer at 2.1 Å resolution

Sondek, J., Bohm, A., Lambright, D. G., Hamm, H. E., & Sigler, P. B. (1996) · Nature · doi:10.1038/379369a0 · Cited by 760 · see citing works

Association of a human G-protein β3 subunit variant with hypertension

Siffert, W., Rosskopf, D., Siffert, G., Busch, S., Moritz, A., Erbel, R., Sharma, A. M., Ritz, E., Wichmann, H. ‐., Jakobs, K. H., et al. (1998) · Nature Genetics · doi:10.1038/ng0198-45 · Cited by 726 · see citing works

A novel, cleavable peroxisomal targeting signal at the amino‐terminus of the rat 3‐ketoacyl‐CoA thiolase.

Swinkels, B. W., Gould, S. J., Bodnar, A. G., Rachubinski, R. A., & Subramani, S. E. (1991) · The EMBO Journal · doi:10.1002/j.1460-2075.1991.tb04889.x · Cited by 623 · see citing works

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Braverman, N., Steel, G., Obie, C., Moser, A. B., Moser, H. W., Gould, S. J., & Valle, D. L. (1997) · Nature Genetics · doi:10.1038/ng0497-369 · Cited by 433 · see citing works

A unified nomenclature for peroxisome biogenesis factors.

Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., et al. (1996) · The Journal of Cell Biology · doi:10.1083/jcb.135.1.1 · Cited by 414 · see citing works

Peroxisomal targeting signal-1 recognition by the TPR domains of human PEX5.

Berg, J. M., Gatto, G. J. J., Geisbrecht, B. V., & Gould, S. J. (2000) · Nature Structural Biology · doi:10.1038/81930 · Cited by 363 · see citing works

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

Jansen, G. A., Oftnan, R., Ferdinandusse, S., IJlst, L., Muijsers, A. O., Skjeldal, O. H., Stokke, O., Jakobs, C., BESLEY, G. T. N., Wraith, J. E., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-190 · Cited by 306 · see citing works

The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

Dietz, H. C., Valle, D., Francomano, C. A., Kendzior, R. J., Pyeritz, R. E., & Cutting, G. A. (1993) · Science · doi:10.1126/science.8430317 · Cited by 289 · see citing works

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

Motley, A. M., Hettema, E. H., Hogenhout, E. M., Brites, P., ten Asbroek, A. L. M. A., Wijburg, F. A., Baas, F., Heijmans, H. S. A., Tabak, H. F., Wanders, R. J. A., et al. (1997) · Nature Genetics · doi:10.1038/ng0497-377 · Cited by 271 · see citing works

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

Purdue, P. E., Zhang, J. W., Skoneczny, M., & Lazarow, P. B. (1997) · Nature Genetics · doi:10.1038/ng0497-381 · Cited by 265 · see citing works

Identification of a structural motif that confers specific interaction with the WD40 repeat domain of Arabidopsis COP1

Holm, M., Hardtke, C. S., Gaudet, R., & Deng, X. (2001) · The EMBO Journal · doi:10.1093/emboj/20.1.118 · Cited by 260 · see citing works

Identification of PAHX, a Refsum disease gene

Mihalik, S. J., Morrell, J. C., Kim, D., Sacksteder, K. A., Watkins, P. A., & Gould, S. J. (1997) · Nature Genetics · doi:10.1038/ng1097-185 · Cited by 244 · see citing works

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

Moser, A. B., Rasmussen, M., Naidu, S., Watkins, P. A., McGuinness, M. C., Hajra, A. K., Chen, G. L., Raymond, G. V., Liu, A., Gordon, D., et al. (1995) · The Journal of Pediatrics · doi:10.1016/s0022-3476(95)70250-4 · Cited by 244 · see citing works

Peroxisome Targeting Signal Type 1 (PTS1) Receptor Is Involved in Import of Both PTS1 and PTS2: Studies with PEX5 -Defective CHO Cell Mutants

Otera, H., Okumoto, K., Tateishi, K., Ikoma, Y., Matsuda, E., Nishimura, M., Tsukamoto, T., Osumi, T., Ohashi, K., Higuchi, O., et al. (1998) · Molecular and Cellular Biology · doi:10.1128/mcb.18.1.388 · Cited by 203 · see citing works

An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes

Braverman, N. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.8.1195 · Cited by 190 · see citing works

A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition

Noensie, E. N., & Dietz, H. C. (2001) · Nature Biotechnology · doi:10.1038/88099 · Cited by 187 · see citing works

Introns are cis Effectors of the Nonsense-Codon-Mediated Reduction in Nuclear mRNA Abundance

Cheng, J., Belgrader, P., Zhou, X., & Maquat, L. E. (1994) · Molecular and Cellular Biology · doi:10.1128/mcb.14.9.6317-6325.1994 · Cited by 159 · see citing works

Mutational analysis of the N-terminal topogenic signal of watermelon glyoxysomal malate dehydrogenase using the heterologous host Hansenula polymorpha.

Gietl, C., Faber, K. N., van der Klei, I. J., & Marten Veenhuis, A. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.8.3151 · Cited by 146 · see citing works

Sterol carrier protein-2

Seedorf, U., Ellinghaus, P., & Nofer, J. R. (2000) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/s1388-1981(00)00047-0 · Cited by 141 · see citing works

Human dihydroxyacetonephosphate acyltransferase deficiency: A new peroxisomal disorder

Wanders, R. J. A., Schumacher, H., Heikoop, J. C., Schutgens, R. B. H., & Tager, J. M. (1992) · Journal of Inherited Metabolic Disease · doi:10.1007/bf02435984 · Cited by 131 · see citing works

Structure of the C‐terminal domain of Tup1, a corepressor of transcription in yeast

Sprague, E. R., Redd, M. J., Johnson, A. D., & Wolberger, C. (2000) · The EMBO Journal · doi:10.1093/emboj/19.12.3016 · Cited by 125 · see citing works

Human alkyldihydroxyacetonephosphate synthase deficiency: A new peroxisomal disorder

Wanders, R. J. A., Dekker, C., Hovarth, V. A. P., Schutgens, R. B. H., Tager, J. M., Laer, P. V., & Lecoutere, D. (1994) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711817 · Cited by 120 · see citing works

Differential protein import deficiencies in human peroxisome assembly disorders.

Motley, A. M., Hettema, E. H., Distel, B., & Tabak, H. F. (1994) · The Journal of Cell Biology · doi:10.1083/jcb.125.4.755 · Cited by 118 · see citing works

Sites for Gα Binding on the G Protein β Subunit Overlap with Sites for Regulation of Phospholipase Cβ and Adenylyl Cyclase

Li, Y., Sternweis, P. M., Charnecki, S., Smith, T. F., Gilman, A. G., Neer, E. J., & Kozasa, T. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.26.16265 · Cited by 115 · see citing works

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1

Motley, A. M., Brites, P., Gerez, L., Hogenhout, E., Haasjes, J., Benne, R., Tabak, H. F., Wanders, R. J. A., & Waterham, H. R. (2002) · The American Journal of Human Genetics · doi:10.1086/338998 · Cited by 107 · see citing works

Sites Important for PLCβ2 Activation by the G Protein βγ Subunit Map to the Sides of the β Propeller Structure

Panchenko, M. P., Saxena, K., Li, Y., Charnecki, S., Sternweis, P. M., Smith, T. F., Gilman, A. G., Kozasa, T., & Neer, E. J. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.43.28298 · Cited by 95 · see citing works

Residues in the WD Repeats of Tup1 Required for Interaction with α2

Komachi, K., & Johnson, A. D. (1997) · Molecular and Cellular Biology · doi:10.1128/mcb.17.10.6023 · Cited by 87 · see citing works

Intracellular Localization, Function, and Dysfunction of the Peroxisome-targeting Signal Type 2 Receptor, Pex7p, in Mammalian Cells

Mukai, S., Ghaedi, K., & Fujiki, Y. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m108635200 · Cited by 83 · see citing works

Peroxisomal protein targeting and identification of peroxisomal targeting signals in cholesterol biosynthetic enzymes

Olivier, L. (2000) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/s1388-1981(00)00139-6 · Cited by 73 · see citing works

Assay of plasmalogens and polyunsaturated fatty acids (PUFA) in erythrocytes and fibroblasts

Dacremont, G., & Vincent, G. (1995) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711431 · Cited by 71 · see citing works

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis

Smeitink, J. A. M., Beemer, F. A., Espeel, M., Donckerwocke, R. A. M. G., Jakobs, C., Wanders, R. J. A., Schutgens, R. B. H., Roels, F., Durán, M., DORLAND, L., et al. (1992) · Journal of Inherited Metabolic Disease · doi:10.1007/bf02435981 · Cited by 59 · see citing works

PEX7 Gene Structure, Alternative Transcripts, and Evidence for a Founder Haplotype for the Frequent RCDP Allele, L292ter

Braverman, N., Steel, G., Lin, P., Moser, A. B., Moser, H. W., & Valle, D. L. (2000) · Genomics · doi:10.1006/geno.1999.6080 · Cited by 47 · see citing works

Measurement of very long‐chain fatty acids, phytanic and pristanic acid in plasma and cultured fibroblasts by gas chromatography

Dacremont, G., Cocquyt, G., & Vincent, G. (1995) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711430 · Cited by 45 · see citing works

Identification of genetic heterogeneity in Refsum's disease

Wierzbicki, A. S., Mitchell, J. J., Lambert‐Hammill, M., Hancock, M., Greenwood, J., Sidey, M. C., de Belleroche, J., & Gibberd, F. B. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200511 · Cited by 42 · see citing works

Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome

Cammareri, V., Vignati, G., Nocera, G., Beck‐Peccoz, P., & Persani, L. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990827)85:5 · Cited by 41 · see citing works

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

Poll‐The, B. T., Maroteaux, P., Narcy, C., Quetin, P., Guesnu, M., Wanders, R. J. A., Schutgens, R. B. H., & Saudubray, J. M. (1991) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01811703 · Cited by 32 · see citing works

Selection of Gβ Subunits with Point Mutations That Fail to Activate Specific Signaling Pathways In Vivo: Dissecting Cellular Responses Mediated by a Heterotrimeric G Protein inDictyostelium discoideum

Jin, T., Amzel, L. M., Devreotes, P. N., & Wu, L. (1998) · Molecular Biology of the Cell · doi:10.1091/mbc.9.10.2949 · Cited by 31 · see citing works

Isoprenoid biosynthesis is not compromised in a Zellweger syndrome mouse model

Vanhorebeek, I., Baes, M. I., & Declercq, P. E. (2001) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/s1388-1981(01)00108-1 · Cited by 22 · see citing works

Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata

Hughes, J. L., Poulos, A., Crane, D. I., Chow, C. W., Sheffield, L. J., & Sillence, D. O. (1992) · European Journal of Pediatrics · doi:10.1007/bf01957935 · Cited by 22 · see citing works

Synthesis of plasmalogens in eye lens epithelial cells

Thai, T.-P., Rodemer, C., Worsch, J., Hunziker, A., Gorgas, K., & Just, W. W. (1999) · FEBS Letters · doi:10.1016/s0014-5793(99)00968-0 · Cited by 21 · see citing works

Chondrodysplasia punctata with a mild clinical course

Nuoffer, J. M., Pfammatter, J. P., Spahr, A., Toplak, H., Wanders, R. J. A., Schutgens, R. B. H., & Wiesmann, U. N. (1994) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00735395 · Cited by 20 · see citing works

A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata

Shimozawa, N., Suzuki, Y., Zhang, Z., Miura, K., Matsumoto, A., Nagaya, M., Taucher, S. C., & Kondo, N. (1999) · Journal of Human Genetics · doi:10.1007/s100380050123 · Cited by 12 · see citing works

Synthesis of Mevalonate Pathway Lipids in Fibroblasts from Zellweger and X-linked ALD Patients

Appelkvist, E., Venizelos, N., Zhang, Y., Parmryd, I., Hagenfeldt, L., & Dallner, G. (1999) · Pediatric Research · doi:10.1203/00006450-199909000-00017 · Cited by 11 · see citing works

Micromegakaryocytes in a patient with partial deletion of the long arm of chromosome 11 [del(11)(q24.2qter)] and chronic thrombocytopenic purpura

Gangarossa, S., Mattina, T., Romano, V., Milana, G., Mollica, F., & Schilirò, G. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960315)62:2 · Cited by 7 · see citing works

Functions of plasmalogen lipids in health and disease

Braverman, N. E., & Moser, A. B. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.05.008 · Cited by 1,082 · see citing works

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

Calvo, S. E., Pagliarini, D. J., & Mootha, V. K. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0810916106 · Cited by 914 · see citing works

Gene Expression Regulation by Upstream Open Reading Frames and Human Disease

Barbosa, C., Peixeiro, I., & Romão, L. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003529 · Cited by 525 · see citing works

Peroxisome biogenesis disorders

Steinberg, S. J., Dodt, G., Raymond, G. V., Braverman, N. E., Moser, A. B., & Moser, H. W. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.09.010 · Cited by 522 · see citing works

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Yu, T. W., Chahrour, M. H., Coulter, M. E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Schmitz-Abe, K., Harmin, D. A., Adli, M., Malik, A. N., et al. (2013) · Neuron · doi:10.1016/j.neuron.2012.11.002 · Cited by 442 · see citing works

Functions and biosynthesis of plasmalogens in health and disease

Brites, P., Waterham, H. R., & Wanders, R. J. A. (2004) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2003.12.010 · Cited by 415 · see citing works

Genetics and molecular basis of human peroxisome biogenesis disorders

Waterham, H. R., & Ebberink, M. S. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.04.006 · Cited by 283 · see citing works

Peroxisomal disorders: The single peroxisomal enzyme deficiencies

Wanders, R. J. A., & Waterham, H. R. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.08.010 · Cited by 279 · see citing works

Metabolic functions of peroxisomes in health and disease

Wanders, R. J. A. (2013) · Biochimie · doi:10.1016/j.biochi.2013.08.022 · Cited by 232 · see citing works

The physiological functions of human peroxisomes

Wanders, R. J. A., Baes, M., Ribeiro, D., Ferdinandusse, S., & Waterham, H. R. (2023) · Physiological Reviews · doi:10.1152/physrev.00051.2021 · Cited by 228 · see citing works

Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders

Wanders, R. J. A., & Waterham, H. R. (2004) · Clinical Genetics · doi:10.1111/j.1399-0004.2004.00329.x · Cited by 220 · see citing works

Peroxisomes, lipid metabolism, and peroxisomal disorders

Wanders, R. J. A. (2004) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.08.016 · Cited by 205 · see citing works

Peroxisome Biogenesis Disorders

Grønborg, S. W., Gould, S. J., & Valle, D. L. (2003) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.4.070802.110424 · Cited by 203 · see citing works

Peroxisomes in brain development and function

Berger, J., Dorninger, F., Forss-Petter, S., & Kunze, M. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.12.005 · Cited by 194 · see citing works

Plasmalogens and Chronic Inflammatory Diseases

Bozelli, J. C., Azher, S., & Epand, R. M. (2021) · Frontiers in Physiology · doi:10.3389/fphys.2021.730829 · Cited by 180 · see citing works

The Diverse Genetic Landscape of Neurodevelopmental Disorders

Hu, W. F., Chahrour, M. H., & Walsh, C. A. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090413-025600 · Cited by 169 · see citing works

Identification of PEX7 as the second gene involved in Refsum disease

van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., & Ronald Wanders, J. A. (2003) · The American Journal of Human Genetics · doi:10.1086/346093 · Cited by 171 · see citing works

Metabolic and molecular basis of peroxisomal disorders: A review

Wanders, R. J. A. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20661 · Cited by 170 · see citing works

Peroxisomes, lipid metabolism and lipotoxicity

Wanders, R. J. A., Ferdinandusse, S., Brites, P., & Kemp, S. (2010) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2010.01.001 · Cited by 169 · see citing works

From peroxisomal disorders to common neurodegenerative diseases – the role of ether phospholipids in the nervous system

Dorninger, F., Forss‐Petter, S., & Berger, J. (2017) · FEBS Letters · doi:10.1002/1873-3468.12788 · Cited by 162 · see citing works

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives

Braverman, N., D’Agostino, D., & MacLean, G. E. (2013) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.1113 · Cited by 162 · see citing works

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

Ebberink, M. S., Mooijer, P. A. W., Gootjes, J., Koster, J., Wanders, R. J. A., & Waterham, H. R. (2010) · Human Mutation · doi:10.1002/humu.21388 · Cited by 159 · see citing works

Phytanic acid: production from phytol, its breakdown and role in human disease

van den Brink, D. M., & Wanders, R. J. A. (2006) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-005-5463-y · Cited by 134 · see citing works

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

Parisi, M. A., Doherty, D., Eckert, M. L., Shaw, D. W. W., Ozyurek, H., Aysun, S., Giray, O., Swaid, A. A., Shahwan, S. A., Dohayan, N., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.036608 · Cited by 133 · see citing works

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency

Buchert, R., Tawamie, H., Smith, C., Uebe, S., Innes, A. M., Al Hallak, B., Ekici, A. B., Sticht, H., Schwarze, B., Lamont, R. E., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.10.003 · Cited by 132 · see citing works

Molecular basis of Refsum disease: Sequence variations in Phytanoyl-CoA Hydroxylase (PHYH) and the PTS2 receptor (PEX7)

Jansen, G. A., Waterham, H. R., & Wanders, R. J. A. (2004) · Human Mutation · doi:10.1002/humu.10315 · Cited by 127 · see citing works

Alkyl-Glycerol Rescues Plasmalogen Levels and Pathology of Ether-Phospholipid Deficient Mice

Brites, P., Ferreira, A. S., da Silva, T. F., Sousa, V., Malheiro, A. R., Durán, M., Waterham, H. R., Baes, M. I., & Wanders, R. J. A. (2011) · PLoS ONE · doi:10.1371/journal.pone.0028539 · Cited by 130 · see citing works

Peroxisome biogenesis disorders

Argyriou, C., D’Agostino, D., & Braverman, N. (2016) · Translational Science of Rare Diseases · doi:10.3233/trd-160003 · Cited by 126 · see citing works

The similarity between N-terminal targeting signals for protein import into different organelles and its evolutionary relevance

Kunze, M., & Berger, J. (2015) · Frontiers in Physiology · doi:10.3389/fphys.2015.00259 · Cited by 117 · see citing works

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata

Brites, P. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg236 · Cited by 116 · see citing works

Plasmalogen homeostasis – regulation of plasmalogen biosynthesis and its physiological consequence in mammals

Honsho, M., & Fujiki, Y. (2017) · FEBS Letters · doi:10.1002/1873-3468.12743 · Cited by 106 · see citing works

Homeostasis of phospholipids — The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens

Dorninger, F., Brodde, A., Braverman, N., Moser, A. B., Just, W. W., Forss‐Petter, S., Brügger, B., & Berger, J. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2014.11.005 · Cited by 96 · see citing works

The genetic nomenclature of recessive cerebellar ataxias

Rossi, M., Anheim, M., Dürr, A., Klein, C., Koenig, M., Synofzik, M., Marras, C., van de Warrenburg, B. P. C., & on behalf of the International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders (2018) · Movement Disorders · doi:10.1002/mds.27415 · Cited by 94 · see citing works

CRISPR-free, programmable RNA pseudouridylation to suppress premature termination codons

Song, J., Dong, L., Sun, H., Luo, N., Huang, Q., Li, K., Shen, X., Jiang, Z., Lv, Z., Peng, L., et al. (2022) · Molecular Cell · doi:10.1016/j.molcel.2022.11.011 · Cited by 90 · see citing works

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders

Poll-The, B. T., & Gärtner, J. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.03.011 · Cited by 85 · see citing works

The importance of ether-phospholipids: A view from the perspective of mouse models

da Silva, T. F., Sousa, V., Malheiro, A. R., & Brites, P. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.05.014 · Cited by 86 · see citing works

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

Barøy, T., Koster, J., Strømme, P., Ebberink, M. S., Misceo, D., Ferdinandusse, S., Holmgren, A., Hughes, T., Merckoll, E., Westvik, J., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv305 · Cited by 81 · see citing works

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3

Itzkovitz, B., Jiralerspong, S., Nimmo, G. A. M., Loscalzo, M. L., Horovitz, D. D. G., Snowden, A., Moser, A. B., Steinberg, S., & Braverman, N. (2011) · Human Mutation · doi:10.1002/humu.21623 · Cited by 78 · see citing works

The chemical biology of branched-chain lipid metabolism

Mukherji, M., Schofield, C. J., Wierzbicki, A. S., Jansen, G. A., Wanders, R. J. A., & Lloyd, M. D. (2003) · Progress in Lipid Research · doi:10.1016/s0163-7827(03)00016-x · Cited by 77 · see citing works

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Hoover-Fong, J. E., Sobreira, N. L. D. M., Jurgens, J. A., Modaff, P., Zawatsky, C. L. B., Moser, A. B., Kim, O.-H., Cho, T., Cho, S. Y., Kim, S. J., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.11.018 · Cited by 70 · see citing works

The type-2 peroxisomal targeting signal

Kunze, M. (2019) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2019.118609 · Cited by 68 · see citing works

A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton

Braverman, N., Zhang, R., Chen, L., Nimmo, G., Scheper, S., Tran, T., Chaudhury, R., Moser, A., & Steinberg, S. (2010) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2009.12.005 · Cited by 66 · see citing works

Crystal structure of peroxisomal targeting signal-2 bound to its receptor complex Pex7p–Pex21p

Pan, D., Nakatsu, T., & Kato, H. (2013) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.2618 · Cited by 65 · see citing works

Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations

Dranchak, P. K., Pietro, E. D., Snowden, A., Oesch, N., Braverman, N., Steinberg, S. J., & Hacia, J. G. (2010) · Journal of Cellular Biochemistry · doi:10.1002/jcb.22979 · Cited by 62 · see citing works

The neurology of rhizomelic chondrodysplasia punctata

Bams-Mengerink, A. M., Koelman, J. H., Waterham, H., Barth, P. G., & Poll-The, B. T. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-174 · Cited by 59 · see citing works

Molecular Mechanisms of Import of Peroxisome-targeting Signal Type 2 (PTS2) Proteins by PTS2 Receptor Pex7p and PTS1 Receptor Pex5pL

Mukai, S., & Fujiki, Y. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m607178200 · Cited by 59 · see citing works

Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes

Reis, L. M., & Semina, E. V. (2018) · Human Genetics · doi:10.1007/s00439-018-1932-x · Cited by 56 · see citing works

Structural Requirements for Interaction of Peroxisomal Targeting Signal 2 and Its Receptor PEX7

Kunze, M., Neuberger, G., Maurer‐Stroh, S., Ma, J., Eck, T., Braverman, N., Schmid, J. A., Eisenhaber, F., & Berger, J. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.301853 · Cited by 52 · see citing works

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders

Ferdinandusse, S., Ebberink, M. S., Vaz, F. M., Waterham, H. R., & Wanders, R. J. A. (2016) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-016-9922-4 · Cited by 51 · see citing works

ASK1 and MAP2K6 as modifiers of age at onset in Huntington’s disease

Arning, L., Monté, D., Hansen, W., Wieczorek, S., Jagiello, P., Akkad, D. A., Andrich, J., Kraus, P. H., Carsten Saft, C., & Epplen, J. T. (2008) · Journal of Molecular Medicine · doi:10.1007/s00109-007-0299-6 · Cited by 50 · see citing works

Ataluren—Promising Therapeutic Premature Termination Codon Readthrough Frontrunner

Michorowska, S. (2021) · Pharmaceuticals · doi:10.3390/ph14080785 · Cited by 49 · see citing works

Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata

Fallatah, W., Smith, T. M., Cui, W., Jayasinghe, D., Pietro, E. D., Ritchie, S. A., & Braverman, N. (2019) · Disease Models & Mechanisms · doi:10.1242/dmm.042499 · Cited by 43 · see citing works

Mechanistic Insights into PTS2-mediated Peroxisomal Protein Import

Kunze, M., Malkani, N., Maurer-Stroh, S., Wiesinger, C., Schmid, J. A., & Berger, J. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.601575 · Cited by 40 · see citing works

Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice

Liegel, R., Chang, B., Dubielzig, R., & Sidjanin, D. J. (2011) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2011.02.002 · Cited by 38 · see citing works

Tissue-selective alteration of ethanolamine plasmalogen metabolism in dedifferentiated colon mucosa

Lopez, D. H., Bestard-Escalas, J., Garate, J., Maimó‐Barceló, A., Fernández, R., Reigada, R., Khorrami, S., Ginard, D., Okazaki, T., Fernández, J. A., et al. (2018) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2018.04.017 · Cited by 38 · see citing works

Phenotype of adult Refsum disease due to a defect in peroxin 7

Horn, M. A., van den Brink, D. M., Wanders, R. J. A., Durán, M., Poll‐The, B. T., Tallaksen, C. M. E., Stokke, O., Moser, H., & Skjeldal, O. H. (2007) · Neurology · doi:10.1212/01.wnl.0000255960.01644.39 · Cited by 38 · see citing works

Tysnd1 Deficiency in Mice Interferes with the Peroxisomal Localization of PTS2 Enzymes, Causing Lipid Metabolic Abnormalities and Male Infertility

Mizuno, Y., Ninomiya, Y., Nakachi, Y., Iseki, M., Iwasa, H., Akita, M., Tsukui, T., Shimozawa, N., Ito, C., Toshimori, K., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003286 · Cited by 37 · see citing works

Human and great ape red blood cells differ in plasmalogen levels and composition

Moser, A. B., Steinberg, S. J., Watkins, P. A., Moser, H. W., Ramaswamy, K. A., Siegmund, K. D., Lee, D. R., Ely, J. J., Ryder, O. A., & Hacia, J. G. (2011) · Lipids in Health and Disease · doi:10.1186/1476-511x-10-101 · Cited by 36 · see citing works

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata

Fallatah, W., Schouten, M., Yergeau, C., Pietro, E. D., Engelen, M., Waterham, H. R., Poll‐The, B. T., & Braverman, N. (2020) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12349 · Cited by 34 · see citing works

Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Biase, I. D., Tortorelli, S., Kratz, L. E., Steinberg, S. J., Cusmano‐Ozog, K. P., & Braverman, N. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0713-9 · Cited by 33 · see citing works

Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjogren-Larsson syndrome.

Malheiro, A. R., da Silva, T. F., & Brites, P. (2015) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-014-9795-3 · Cited by 33 · see citing works

Rhizomelic Chondrodysplasia Punctata Type 1

Braverman, N., Moser, A. B., & Steinberg, S. J. (2012) · Europe PMC (PubMed Central) · Cited by 29 · see citing works

Peroxisomes in Different Skeletal Cell Types during Intramembranous and Endochondral Ossification and Their Regulation during Osteoblast Differentiation by Distinct Peroxisome Proliferator-Activated Receptors

Qian, G., Fan, W., Ahlemeyer, B., Karnati, S., & Baumgart‐Vogt, E. (2015) · PLoS ONE · doi:10.1371/journal.pone.0143439 · Cited by 29 · see citing works

Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1

Nimmo, G. A. M., Monsonego, S., Descartes, M. D., Franklin, J. C., Steinberg, S. J., & Braverman, N. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33489 · Cited by 28 · see citing works

Metabolic neuropathies and myopathies

D’Amico, A., & Bertini, E. (2013) · Handbook of clinical neurology · doi:10.1016/b978-0-444-59565-2.00013-7 · Cited by 28 · see citing works

Growth charts for individuals with rhizomelic chondrodysplasia punctata

Duker, A. L., Niiler, T., Eldridge, G., Brereton, N. H., Braverman, N., & Bober, M. B. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37961 · Cited by 27 · see citing works

Comparative profiling of the peroxisomal proteome of wildtype and Pex7 knockout mice by quantitative mass spectrometry

Wiese, S., Gronemeyer, T., Brites, P., Ofman, R., Bunse, C., Renz, C., Meyer, H. E., Wanders, R. J. A., & Warscheid, B. (2011) · International Journal of Mass Spectrometry · doi:10.1016/j.ijms.2011.09.005 · Cited by 23 · see citing works

Peroxisomal Disorders and Their Mouse Models Point to Essential Roles of Peroxisomes for Retinal Integrity

Das, Y., Swinkels, D., & Baes, M. I. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22084101 · Cited by 24 · see citing works

Alkylglycerone phosphate synthase (AGPS) deficient mice: Models for rhizomelic chondrodysplasia punctata type 3 (RCDP3) malformation syndrome

Liegel, R. P., Ronchetti, A., & Sidjanin, D. J. (2014) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2014.06.003 · Cited by 22 · see citing works

Plasmalogens regulate the AKT-ULK1 signaling pathway to control the position of the axon initial segment

da Silva, T. F., Granadeiro, L., Bessa‐Neto, D., Luz, L. L., Safronov, B. V., & Brites, P. (2021) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2021.102123 · Cited by 22 · see citing works

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update

Duker, A. L., Niiler, T., Kinderman, D., Schouten, M., Poll‐The, B. T., Braverman, N., & Bober, M. B. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61413 · Cited by 21 · see citing works

Inhibition of peroxisomal functions due to oxidative imbalance induced by mistargeting of catalase to cytoplasm is restored by vitamin E treatment in skin fibroblasts from Zellweger syndrome-like patients

Kawada, Y., Khan, M., Sharma, A. K., Ratnayake, D. B., Dobashi, K., Asayama, K., Moser, H. W., Contreras, M. A., & Singh, I. (2004) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.07.012 · Cited by 16 · see citing works

Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata

Luisman, T., Smith, T. M., Ritchie, S. A., & Malone, K. E. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01889-z · Cited by 15 · see citing works

Congenital heart defects common in rhizomelic chondrodysplasia punctata

Duker, A. L., Eldridge, G., Braverman, N., & Bober, M. B. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37404 · Cited by 14 · see citing works

Association Between Peroxisomal Biogenesis Factor 7 and Autism Spectrum Disorders in a Korean Population

Ro, M., Park, J., Nam, M., Bang, H. J., Yang, J.-W., Choi, K.-S., Kim, S. K., Chung, J., & Kwack, K. (2012) · Journal of Child Neurology · doi:10.1177/0883073811435507 · Cited by 14 · see citing works

Phenotypic Variability (Heterogeneity) of Peroxisomal Disorders

Mandel, H., & Korman, S. H. (2003) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-9072-3_2 · Cited by 14 · see citing works

Asymmetric Distribution of Plasmalogens and Their Roles—A Mini Review

Honsho, M., & Fujiki, Y. (2023) · Membranes · doi:10.3390/membranes13090764 · Cited by 13 · see citing works

A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity—Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1

Fallatah, W., Cui, W., Pietro, E. D., Carter, G. T., Pounder, B., Dorninger, F., Pifl, C., Moser, A. B., Berger, J., & Braverman, N. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.886316 · Cited by 12 · see citing works

Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India

Phadke, S. R., Gupta, N., Girisha, K. M., Kabra, M., Maeda, M., Vidal, E., Moser, A. B., Steinberg, S. J., Puri, R. D., Verma, I. C., et al. (2010) · Journal of Applied Genetics · doi:10.1007/bf03195717 · Cited by 11 · see citing works

A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes

Ali, M., Khan, S. Y., Rodrigues, T. A., Francisco, T., Jiao, X., Qi, H., Kabir, F., Irum, B., Rauf, B., Khan, A. A., et al. (2021) · Human Genetics · doi:10.1007/s00439-020-02238-z · Cited by 9 · see citing works

Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings

Zwijnenburg, P. J. G., Deurloo, K. L., Waterham, H. R., Meijers-Heijboer, E. J., van Vugt, J. M. G., & Tan-Sindhunata, G. M. B. (2009) · Prenatal Diagnosis · doi:10.1002/pd.2425 · Cited by 9 · see citing works

PEX7Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature

Nanetti, L., Pensato, V., Leoni, V., Rizzetto, M., Caccia, C., Taroni, F., Mariotti, C., & Gellera, C. (2015) · Journal of Clinical Neurology · doi:10.3988/jcn.2015.11.2.197 · Cited by 9 · see citing works

First‐In‐Human Safety, Tolerability, and Pharmacokinetics of PPI ‐1011, a Synthetic Plasmalogen Precursor

Smith, T. M., Knudsen, K. J., & Ritchie, S. A. (2025) · Clinical and Translational Science · doi:10.1111/cts.70195 · Cited by 8 · see citing works

Plasmalogen as a Bioactive Lipid Drug: From Preclinical Research Challenges to Opportunities in Nanomedicine

Wu, Y., Deng, Y., Angelov, B., & Angelova, A. (2025) · FASEB BioAdvances · doi:10.1096/fba.2025-00010 · Cited by 8 · see citing works

Peroxisomal Localization of a Truncated HMG-CoA Reductase under Low Cholesterol Conditions

Wang, J., Kunze, M., Villoria-González, A., Weinhofer, I., & Berger, J. (2024) · Biomolecules · doi:10.3390/biom14020244 · Cited by 8 · see citing works

Multiple Lab Comparison of Microarray Platforms

Irizarry, R. A. (2004) · Collection of Biostatistics Research Archive · Cited by 8 · see citing works

Peroxisomal Disorders and Neurological Disease

Braverman, N., & Eichler, F. (2009) · Elsevier eBooks · doi:10.1016/b978-008045046-9.02011-8 · Cited by 7 · see citing works

Human Disorders of Peroxisome Biogenesis: Zellweger Spectrum and Rhizomelic Chondrodysplasia Punctata

Braverman, N., Argyriou, C., & Moser, A. B. (2014) · Springer eBooks · doi:10.1007/978-3-7091-1788-0_4 · Cited by 7 · see citing works

Quantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders

Biase, I. D., Yuzyuk, T. N., Cui, W., Zuromski, L. M., Moser, A. B., & Braverman, N. (2023) · Clinica Chimica Acta · doi:10.1016/j.cca.2023.117295 · Cited by 6 · see citing works

Chondrodysplasia Punctata 1, X-Linked

Braverman, N., Bober, M. B., Brunetti‐Pierri, N., & Oswald, G. L. (2014) · Cited by 4 · see citing works

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

Çim, A., Coşkun, S., Görükmez, O., Yüksel, H., Uluca, Ü., Pietro, E. D., Plourde, F., & Braverman, N. (2015) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.1835 · Cited by 4 · see citing works

Peroxisomal Disorders

Raymond, G. V., Watkins, P. A., Steinberg, S. J., & Powers, J. (2009) · Springer eBooks · doi:10.1007/978-0-387-30378-9_26 · Cited by 4 · see citing works

Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1

Mohamadynejad, P., Ghaedi, K., Shafeghati, Y., Salamian, A., Tanhaie, S., Karamali, F., Rabiee, F., Parivar, K., Baharvand, H., & Nasr‐Esfahani, M. H. (2013) · Gene · doi:10.1016/j.gene.2013.01.022 · Cited by 4 · see citing works

Peroxisomal Disorders

Poll‐The, B. T., Aubourg, P. R., & Wanders, R. J. A. (2011) · Springer eBooks · doi:10.1007/978-3-642-15720-2_41 · Cited by 4 · see citing works

Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders

Wanders, R. J. A., Engelen, M., & Vaz, F. M. (2022) · Springer eBooks · doi:10.1007/978-3-662-63123-2_42 · Cited by 4 · see citing works

Clinical features and genetic analysis of A20 haploinsufficiency

Xue, F., An, C., Lei, Z., Dong, S., Guo, Y., Hou, J., Yu, J., & Wang, Y. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-04004-8 · Cited by 3 · see citing works

General Movements and Developmental Functioning in an Individual with Rhizomelic Chondrodysplasia Punctata within the First Months of the Life: A Case Report

Yardımcı-Lokmanoğlu, B. N., Mutlu, A., & Livanelioğlu, A. (2020) · Physical & Occupational Therapy In Pediatrics · doi:10.1080/01942638.2020.1841870 · Cited by 3 · see citing works

Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B

Masih, S., Moirangthem, A., & Phadke, S. R. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62110 · Cited by 3 · see citing works

Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis.

Simpson, C. L., Wojciechowski, R., Ibay, G. P., Stambolian, D., & Wilson, J. (2011) · PubMed Central · Cited by 3 · see citing works

Differential Eye Expression of Xenopus Acyltransferase Gnpat and Its Biochemical Characterization Shed Light on Lipid-Associated Ocular Pathologies

Bertolesi, G. E., Chilije, M. F. J., Li, V., Thompson, C. C., López‐Villalobos, A., Hehr, C. L., Atkinson‐Leadbeater, K., Zaremberg, V., & McFarlane, S. (2023) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.64.5.17 · Cited by 3 · see citing works

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1

Motley, A. M., Brites, P., Gerez, L., Hogenhout, E., Haasjes, J., Benne, R., Tabak, H. F., Wanders, R. J. A., & Waterham, H. R. (2002) · The American Journal of Human Genetics · doi:10.1086/338998 · Cited by 107 · see citing works

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Braverman, N., Steel, G., Obie, C., Moser, A. B., Moser, H. W., Gould, S. J., & Valle, D. L. (1997) · Nature Genetics · doi:10.1038/ng0497-369 · Cited by 433 · see citing works

Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type

Hans, R. (2016)

A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata

Shimozawa, N., Suzuki, Y., Zhang, Z., Miura, K., Matsumoto, A., Nagaya, M., Taucher, S. C., & Kondo, N. (1999) · Journal of Human Genetics · doi:10.1007/s100380050123 · Cited by 12 · see citing works

C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I.

Salamian, A., Mohamadynejad, P., Ghaedi, K., Nejati, A. S., Shafeghati, Y., Ahnak, M. B., Nematollahi, M., Karbalaie, K., Hadipour, F., Baharvand, H., et al. (2013) · PubMed · Cited by 1 · see citing works