The DOI matches its Crossref record; 52 of the 52 references it cites were found in a registry or an index.
Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
Open accessAbstract
PEX7 encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Mutations in PEX7 cause rhizomelic chondrodysplasia punctata (RCDP), a distinct peroxisome biogenesis disorder. In previous work we described three novel PEX7 mutant alleles, including one, L292X, with a high frequency due to a founder effect. We have now extended our analysis to 60 RCDP probands and identified a total of 24 PEX7 alleles, accounting for 95% of the mutant PEX7 genes in our sample. Of these, 50% are L292X, 13% are IVS9+1G>C, and the remainder are mostly private. IVS9+1G>C occurs on at least three different haplotypes and thus appears to result from recurrent mutation. The phenotypic spectrum of RCDP is broader than commonly recognized and includes minimally affected individuals at the mild end of the spectrum. To relate PEX7 genotype and phenotype, we evaluated the consequence of the disease mutation on PEX7 RNA by Northern analysis and RT/PCR. We evaluated the function of the encoded Pex7 protein (Pex7p) by expressing selected alleles in fibroblasts from RCDP patients and assaying their ability to restore import of a PTS2 marker protein. We find that residual activity of mutant Pex7p and reduced amounts of normal Pex7p are associated with milder and variant phenotypes.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“The severity of the disease varies remarkably, depending strongly on the residual activity of the affected enzyme and, thus, the level of plasmalogens [188–191].”
From Peroxisomes in brain development and function (2016) · cites this paper as [190]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928
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 3,259
Shapiro, M. B., & Senapathy, P. (1987) · Nucleic Acids Research · doi:10.1093/nar/15.17.7155 · Cited by 2,313
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
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 · cited 1×
“The wild-type PEX7 sequence in this region has a tandem repeat, GGACGCC G GGACGCC from bp 38–52, and thus the mechanism generating the duplication and deletion alleles is consistent with a slipped-mispairing model [Streisinger et al., 1966].”
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
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 1,140
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
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 761
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
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
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
Self-citationThe 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 417
Self-citationA 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
Self-citationPeroxisomal 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
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
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
Purdue, P. E., Zhang, J. W., Skoneczny, M., & Lazarow, P. B. (1997) · Nature Genetics · doi:10.1038/ng0497-381 · Cited by 265
Holm, M., Hardtke, C. S., Gaudet, R., & Deng, X. (2001) · The EMBO Journal · doi:10.1093/emboj/20.1.118 · Cited by 260
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
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
Self-citationOtera, 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
Braverman, N. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.8.1195 · Cited by 190
Self-citationA 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
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
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 145
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 143
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
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
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
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
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
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
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
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
Mukai, S., Ghaedi, K., & Fujiki, Y. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m108635200 · Cited by 83
Olivier, L. (2000) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/s1388-1981(00)00139-6 · Cited by 74
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
Deere, M., Sanford, T., Francomano, C. A., Daniels, K. J., & Hecht, J. T. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990827)85:5 · Cited by 71
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
Happle, R., Effendy, I., Megahed, M., Orlow, S. J., & Küster, W. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960315)62:2 · Cited by 56
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
Self-citationDacremont, G., Cocquyt, G., & Vincent, G. (1995) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711430 · Cited by 45
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
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
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
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
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
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
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
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
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
Research works printed but not linked: 4
- Chakraborty, 2001, AJHG, 69S
- Cheng, 1994, Mol Cell Biol, 14, 6317, 10.1128/MCB.14.9.6317 · DOI
- Moser, 1996, AJHG, 59S
- Moser, 1997, Ann Neurol, 42
Cited by
Sorted by citations
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
Self-citationCalvo, S. E., Pagliarini, D. J., & Mootha, V. K. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0810916106 · Cited by 914
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
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
Self-citationUsing 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
Self-citation
Metadata
- Authors
- Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., Moser, H., & Valle, D.
- Affiliations
- Johns Hopkins University (US)
- Howard Hughes Medical Institute (US)
- Hospital for Sick Children (CA)
- Royal Children's Hospital (AU)
- Kennedy Krieger Institute (US)
- Corresponding author
- Braverman, Nancy
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2002-09-24
- Volume
- 20
- Issue
- 4
- Pages
- 284-297
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W1987179081
- Cited by
- 134
- References
- 52
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 2 · 2023: 4 · 2022: 5 · 2021: 8 · 2020: 2 · 2019: 7 · 2018: 4 · 2017: 4 · 2016: 5 · 2015: 8 · 2014: 11 · 2013: 11 · 2012: 10
- FWCI
- 3.50
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Johns Hopkins University
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (1RO1HD39747, P01HD10981, P01HD010981, R01HD039747)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- PEX7, rhizomelic chondrodysplasia punctata, peroxisome biogenesis disorders, founder effect, genotype-phenotype correlation, peroxisomal matrix protein import, haplotypes
- MeSH terms
- Peroxisomal Targeting Signal 2 Receptor, Adolescent, Amino Acid Sequence, Child, Child, Preschool, DNA Mutational Analysis, Genotype, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Phenotype, Receptors, Cytoplasmic and Nuclear, Founder Effect, Chondrodysplasia Punctata, Rhizomelic, Amino Acid Substitution, Protein Structure, Quaternary
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
