CoChat
Sign Up
Cited by 190Metabolism and Genetic DisordersLysosomal Storage Disorders ResearchHereditary Neurological Disorders

The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.

X-Linked Adrenoleukodystrophy: Genes, Mutations, and Phenotypes

Smith, Kirby D., Kemp, Stephan, Braiterman, Lelita T., Lu, Jyh-Feng, Wei, He-Ming, Geraghty, Michael, Stetten, Gail, Bergin, James S., Pevsner, Jonathan, Watkins, Paul A.·1999·Neurochemical Research
DOI 10.1023/a:1022535930009
Open this paper in CoChat — free account

Abstract

X-linked adrenoleukodystrophy (X-ALD) is a complex and perplexing neurodegenerative disorder. The metabolic abnormality, elevated levels of very long-chain fatty acids in tissues and plasma, and the biochemical defect, reduced peroxisomal very long-chain acyl-CoA synthetase (VLCS) activity, are ubiquitous features of the disease. However, clinical manifestations are highly variable with regard to time of onset, site of initial pathology and rate of progression. In addition, the abnormal gene in X-ALD is not the gene for VLCS. Rather, it encodes a peroxisomal membrane protein with homology to the ATP-binding cassette (ABC) transmembrane transporter superfamily of proteins. The X-ALD protein (ALDP) is closely related to three other peroxisomal membrane ABC proteins. In this report we summarize all known X-ALD mutations and establish the lack of an X-ALD genotype/phenotype correlation. We compare the evolutionary relationships among peroxisomal ABC proteins, demonstrate that ALDP forms homodimers with itself and heterodimers with other peroxisomal ABC proteins and present cDNA complementation studies suggesting that the peroxisomal ABC proteins have overlapping functions. We also establish that there are at least two peroxisomal VLCS activities, one that is ALDP dependent and one that is ALDP independent. Finally, we discuss variable expression of the peroxisomal ABC proteins and ALDP independent VLCS in relation to the variable clinical presentations of X-ALD.

Overview

Integrity signals

Registry

Crossref · 10.1023/a:1022535930009

Cites

8 of 8 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Verification

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

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?

  • Large deletions or frameshift mutations leading to complete absence of ALDP can be associated with mild AMN phenotypes as well as with cALD.

    “Beyond the “one gene, one disease” paradigm, large deletions or frameshift mutations leading to the complete absence of the ALD protein (ALDP) can be associated with mild AMN phenotypes as well as with cALD [102].”

    From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [102]

  • ABCD1 mutations do not govern the individual variability of clinical manifestations in X-ALD.

    “More strikingly than in many single-gene diseases, ABCD1 mutations do not govern the individual variability of clinical manifestations.”

    From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [102]

  • The 1415delAG mutation has been identified in patients with all possible X-ALD phenotypes.

    “The mutation 1415delAG has been identified in patients with all possible X-ALD phenotypes [Kemp et al., 1994;Smith et al., 1999].”

    From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Smith et al., 1999

  • X-ALD fibroblasts transfected with an ALDP deletion mutant lacking amino acids 693 to 745 had similar β-oxidation activity as X-ALD fibroblasts transfected with wild type ALDP cDNA, and deletion of the 52 carboxyl-terminal amino acids did not affect protein stability.

    “Smith and coworkers [1999] demonstrated that X-ALD fibroblasts transfected with a cDNA construct encoding an ALDP deletion mutant that lacks amino acids 693 to 745 (ALDPdel693-745) had similar β-oxidation activity as X-ALD fibroblasts transfected with a wild type ALDP cDNA construct.In addition, the deletion of the 52 carboxyl-terminal amino acids did not affect the stability of the protein.”

    From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Smith et al., 1999

  • In vitro, homodimerization and heterodimerization of the carboxyl-terminal halves of ALDP, ALDRP, and PMP70 have been demonstrated.

    “In vitro, homodimerization, and heterodimerization of the carboxyl-terminal halves of ALDP, ALDRP, and PMP70 have been demonstrated using co-immunoprecipitation assays and the yeast two-hybrid system [Smith et al., 1999;Liu et al., 1999].”

    From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Smith et al., 1999

Citations

Cites

Flagged first, then by citations

Research works printed but not linked: 68

  1. Moser, H.W., Smith, K.D., and Moser, A.B. 1994. X-linked Adrenoleukodystrophy. Pages 2325-49, in Scriver, C.R., Beaudet, A.L., Sly, W.S., and Valle, D. (eds). The Metabolic and Molecular Basis of Inherited Disease, Seventh Edition. New York: McGraw Hill.
  2. Poulos, A., Singh, H., Paton, B., Sharp, P., and Derwas, N. 1986. Accumulation and defective β-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants. Clin. Genet. 29:397-408. · DOI
  3. Singh, I., Moser, A.B., Goldfischer, S., and Moser, H.W. 1984. Lignoceric acid is oxidized in the peroxisomes: Implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. Proc. Natl. Acad. Sci. USA 81:4203-7. · DOI
  4. Wanders, R.J.A, van Roermond, C.W.T, van Wijland, M.J.A, Nijenhuis, A.A, Tromp, A., Schutgens, R.B.H., Brouwer-Kelder, E.M., Schram, A.W., Tager, J.M., van den Bosch, H., and Schalkwijk, C. 1987. X-linked adrenoleukodystrophy: Defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters. Clin. Chim. Acta. 165:321-9. · DOI
  5. Singh, I., Moser, A.B., Moser, H.W., and Kishimoto, Y. 1984. Adrenoleukodystrophy: Impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts and amniocytes. Pediatr. Res. 18(3):286-90. · DOI · Paper page
  6. Lazo, O., Contreras, M., Bhushan, A., Stanley, W., and Singh, I. 1989. Adrenoleukodystrophy: Impaired oxidation of fatty acids due to peroxisomal lignoceroyl-CoA ligase deficiency. Arch. Biochem. Biophys. 270(2):722-8. · DOI
  7. Wanders, R.J.A., van Roermund, C.W.T., van Wijland, M.J.A., Schutgens, R.B.H., van deb Bosch, H., Schram, A.W., and Tager, J.M. 1988. Direct evidence that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids. Biochem. Biophys. Res. Commun. 153:618-24. · DOI
  8. Uchida, Y., Kondo, N., Orii, T., and Hashimoto, T. 1996. Purification and properties of rat liver peroxisomal very long chain Acyl-CoA synthetase. J. Biochem. 119:565-71. · DOI
  9. Uchiyama, A., Aoyama, T., Kamijo, K., Uchida, Y., Kondo, N., Orii, T., and Hashimoto, T. 1996. Molecular cloning of cDNA encoding rat very long chain acyl-CoA synthetase. J. Biol. Chem. 271(48):30360-5. · DOI
  10. Higgins, C.F. 1992. ABC transporters: From microorganisms to man. Annu. Rev. Cell. Biol. 8:67-113. · DOI · Paper page
  11. Mosser, J., Lutz, Y., Stoeckel, M.E., Sarde, C.-O., Kretz, C., Douar, A.M., Lopez, J., Aubourg, P., and Mandel, J.L. 1994. The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. Hum. Mol. Genet. 3(2):265-71. · DOI · Paper page
  12. Watkins, P.A., Gould, S.J., Smith, M.A., Braiterman, L.T., Wei, H.M., Kok, F., Moser, A.B., Moser, H.W., and Smith, K.D. 1995. Altered expression of ALDP in X-linked adrenoleukodystrophy. Am. J. Hum. Genet. 57:292-301.
  13. Cartier, N., Lopez, J., Moullier, P., Rocchiccioli, F., Rolland, M.-O., Jorge, P., Mosser, J., Mandel, J.-M., Bougneres, P.-F., Danos, O., and Aubourg, P. 1995. Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts. Proc. Natl. Acad. Aci. USA 92:1674-8. · DOI · Paper page
  14. Braiterman, L.T., Zheng, S., Watkins, P.A., Geraghty, M.T., Johnson, G., McGuinness, M.C., Moser, A.B., and Smith, K.D. 1998. Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins. Hum. Molec. Genet. 7(2):239-47. · DOI · Paper page
  15. Kamijo, K., Taketani, S., Yokota, S., Osumi, T., and Hashimoto, T. 1990. The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily. J. Biol. Chem. 265(8):4534-40. · DOI · Paper page
  16. Gartner, J., Moser, H., and Valle, D. 1992. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nature. Genet. 1:16-23. · DOI
  17. Lombard-Platet, G., Savary, S., Sarde, C.-O., Mandel, J.-L., and Chimini, G. 1996. A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern. Proc. Natl. Acad. Sci. USA 93:1265-9. · DOI · Paper page
  18. Shani, N., Jimenez-Sanchez, G., Steel, G., Dean, M., and Valle, D. 1997. Identification of a fourth half ABC transporter in the human peroxisomal membrane. Hum. Mol. Genet. 6(11):1925-31. · DOI
  19. Cartier, N., Sarde, C.O., Douar, A.M., Mosser, J., Mandel, J.L., and Aubourg, P. 1993. Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. Hum. Mol. Genet. 2:1949-51. · DOI · Paper page
  20. Barcelo, A., Giros, M., Albiach, V.J., Vaquerizo, J., Pampols, T., and Estivill, X. 1996. Identification of two new nonsense mutations (Q311X and W326X) in exon 2 of the adrenoleukodystrophy (ALD) gene. Hum. Mutat. 8:286-7. · DOI
  21. Fanen, P., Guidoux, S., Sarde, C.O., Mandel, J.L., Goossens, M., and Aubourg, P. 1994. Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. J. Clin. Invest. 94:516-20. · DOI
  22. Fuchs, S., Sarde, C.O., Wedemann, H., Schwinger, E., Mandel, J. L., and Gal, A. 1994. Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). Hum. Mol. Genet. 3(10):1903-5. · DOI · Paper page
  23. Koike, R., Onodera, O., Tabe, H., Kaneko, K., Miyatake, T., Iwasaki, S., Nakano, M., Shizuma, N., Ikeguchi, K., Nishizawa, M., Mosser, J., Sarde, C.O., and Tsuji, S. 1995. Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients. Hum. Mutat. 6:263-7. · DOI
  24. Uchiyama, A., Suzuki, Y., Song, X.Q., Fukao, T., Imamura, A., Tomatsu, S., Shimozawa, N., and et al. 1994. Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy. Biochem. Biophys. Res. Commun. 198:632-6. · DOI
  25. Berger, J., Molzer, B., Fae, I., and Bernheimer, H. 1994. X-linked adrenoleukodystrophy (ALD): A novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Biochem. Biophys. Res. Commun. 205:1638-43. · DOI · Paper page
  26. Braun, A., Ambach, H., Kammerer, S., Rolinski, B., Stockler, S., Rabl, W., Gartner, J., Zierz, S., and Roscher, A.A. 1995. Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. Am. J. Hum. Genet. 56:854-61.
  27. Kemp, S., Ligtenberg, M.J.L., van Geel, B.M., Barth, P.G., Sarde, C.O., van Oost, B.A., and Bolhuis, P.A. 1995. Two intronic mutations in the adrenoleukodystrophy gene. Hum. Mutat. 6:272-3. · DOI
  28. Kok, F., Neumann, S., Sarde, C.-O., Zheng, S., Wu, K.-H., Wei, H.-M., Bergin, J., Watkins, P.A., Gould, S., Sack, G., Moser, H., Mandel, J.-L., and Smith, K.D. 1995. Mutational analysis of patients with X-linked adrenoleukodystrophy. Hum. Mutat. 6:104-15. · DOI · Paper page
  29. Ligtenberg, M.J.L., Kemp, S., Sarde, C.O., van Geel, B., Kleijer, W.J., Barth, P.J., Mandel, J.L., van Oost, A., and Bolhuis, P.A. 1995. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am. J. Hum. Genet. 56:44-50.
  30. Matsumoto, T., Kondoh, T., Masuzaki, H., Harada, N., Matsusaka, T., Kinochita, E., Takeo, G., Tsujihata, M., Suzuki, Y., and Tsuji, Y. 1994. A point mutation at the ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy. Jpn. J. Hum. Genet. 39:345-51. · DOI
  31. Song, X.Q., Fukao, T., Suzuki, Y., Imamura, A., Uchiyama, A., Shimozawa, N., Kondo, N., and Orii, T. 1995. Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient. Hum. Mol. Genet. 4:1093-4. · DOI
  32. Yasutake, T., Tamada, T., Furuya, H., Shinnoh, N., Goto, I., and Kobayashi, T. 1995. Molecular analysis of X-linked adrenoleukodystrophy patients. J. Neurol. Sci. 131:58-64. · DOI
  33. Feigenbaum, V., Lombard-Platet, G., Guidoux, S., Sarde, C., Mandel, J.L., and Aubourg, P. 1996. Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. Am. J. Hum. Genet. 58:1135-44.
  34. Krasemann, E.W., Meier, V., Korenke, G.C., Hunneman, D.H., and Hanefeld, F. 1996. Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy. Hum. Genet. 97:194-7. · DOI
  35. Ueyama, H., Yamano, T., Shimada, M., and Ohkubo, I. 1996. Novel missense and frameshift mutations in the adrenoleukodystrophy gene. Jpn. J. Hum. Genet. 41:407-11. · DOI
  36. Imamura, A., Suzuki, Y., Song, X.Q., Fukao, T., Uchiyama, A., Shimozawa, N., Kamijo, K., Hashimoto, T., Orii, T., and Kondo, N. 1997. Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: Immunoblotting and immunocytological study of two patients. Clin. Genet. 51:322-5. · DOI
  37. Korenke, G.C., Krasemann, E., Meier, V., Beuche, W., Hunneman, D.H., and Hanefeld, F. 1998. First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. Hum Mutat 1(Suppl.):S204-S206. · DOI
  38. Holzinger, A., Maier, E., Stockler-Ipsiroglu, S., Braun, A., and Roscher, A.A. 1998. Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene. Clin. Genet. 53:482-7. · DOI
  39. Cooper, D.N., Krawczak, M., and Antonarakis, S.E. 1995. The nature and mechanisms of human gene mutations. Pages 259-91, in Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., and (eds). The Metabolic and Molecular Basis of Inherited Diseases, Seventh Edition. New York: McGraw-Hill.
  40. Shani, N., Sapag, A., and Valle, D. 1996. Characterization and analysis of conserved motifs in a peroxisomal ATP-binding cassette transporter. J. Biol. Chem. 271:8725-30. · DOI
  41. Kerppola, R.E., and Ames, G.F. 1992. Topology of the hydrophobic membrane-bound components of the histidine periplasmic permease. Comparison with other members of the family. J. Biol. Chem. 267(4):2329-36. · DOI
  42. Saurin, W., Koster, W., and Dassa, E. 1994. Bacterial binding protein-dependent permeases: Characterization of distinctive signatures for functionally related integral cytoplasmic membrane proteins. Mol. Microbiol. 12(6):993-1004. · DOI
  43. Barker, D., Schafer, M., and White, R. 1984. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 36:131-8. · DOI
  44. Mosser, J., Sarde, C.O., Vicaire, S., Yates, J.R., and Mandel, J.L. 1994. A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene. Genomics 22:469-71. · DOI · Paper page
  45. Kemp, S., Mooyer, P.A.W., Bolhuis, P.A., van Geel, B.M., Mandel, J.L., Barth, P.G., Aubourg, P., and Wanders, R.J.A. 1996. ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy. J. Inher. Metab. Dis. 19:667-74. · DOI · Paper page
  46. Decottignies, A. and Goffeau, A. 1997. Complete inventory of the yeast ABC proteins. Nature Genet. 15:137-45. · DOI
  47. Taglicht, D. and Michaelis, S. 1998. Saccharomyces cerevisiae ABC proteins and their relevance to human health and disease. Meth. Enzymol. 292:130-162. · DOI
  48. Valle, D. and Gartner, J. 1993. Penetrating the peroxisome. Nature 361:682-3. · DOI
  49. Shani, N., Steel, G., Dean, M., and Valle, D. 1996. Four half ABC transporters may heterodimerize in the peroxisome membrane. Am. J. Hum. Genet. 59(4 (Suppl)):42A.
  50. Spies, T. and DeMars, R. 1991. Restored expression of major histocompatibility class I molecules by gene transfer of a putative peptide transporter. Nature 351:323-4. · DOI
  51. Philipson, L.H. and Steiner, D.F. 1995. Pas de deux or more: the sulfonylurea receptor and K+ channels. Science 268:372-3. · DOI
  52. Al-Awqati, Q. 1995. Regulation of ion channels by ABC transporters that secrete ATP. Science 269:805-6. · DOI
  53. Aguilar-Bryan, L., Nichols, C.G., Wechsler, S.W., Clement IV, J.P., Boyd III, A.E., Gonzalez, G., Herrera-Sosa, H., Nguy, K., Bryan, J., and Nelson, D.A. 1995. Cloning of the beta cell high-affinity sulfonylurea receptor: A regulator of insulin secretion. Science 268:423-5. · DOI · Paper page
  54. Thomas, P.M., Cote, G.J., Wohilk, N., Haddad, B., Mathew, P.M., Rabi, W., Aguilar-Bryan, L., Gagel, R.F., and Bryan, J. 1995. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268:426-9. · DOI · Paper page
  55. Schwiebert, E.M., Egan, M.E., Hwang, T.-O., Fulmer, S.B., Allen, S.S., Cutting, G.R., and Guggino, W.B. 1995. CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP. Cell 81:1063-73. · DOI
  56. Stutts, M.J., Canessa, C.M., Olsen, J.C., Hamrik, M., Cohn, J.A., Rossier, B.C., and Boucher, R.C. 1995. CFTR as a cAMP-dependent regulator of sodium channels. Science 269:847-50. · DOI
  57. Watkins, P.A., Lu, J.-F., Steinberg, S.J., Gould, S.J., Smith, K.D., and Braiterman, L.T. 1998. Disruption of the Saccharomyces cerevisiae FAT1 gene decreases very long chain fatty acyl-CoA sythetase activity and elevates intracellular very long chain fatty acid concentrations. J. Biol. Chem. 273:18210-18219. · DOI
  58. Smith, K.D., Sack, G., Beaty, T., Bergin, A., Naidu, S., Moser, A., and Moser, H.W. 1991. A genetic basis for the multiple phenotypes of X-linked adrenoleukodystrophy. Am. J. Hum. Genet. 49:165.
  59. Moser, H.W., Moser, A.B., Smith, K.D., Bergin, A., Borel, J., Shankroff, J., Stine, O.C., Merette, C., Ott, J., Krivit, W., and Shapiro, E. 1992. Adrenoleukodystrophy: Phenotypic variability: Implications for therapy. J. Inher. Metab. Dis. 15:645-64. · DOI · Paper page
  60. Maestri, N.E. and Beaty, T.H. 1992. Predictions of a 2-locus model for disease heterogeneity: Applications to adrenoleukodystrophy. Am. J. Hum. Genet. 44:576-82. · DOI
  61. Migeon, B.R., Moser, H.W., Moser, A.B., Axelman, J., Sillence, D., and Norum, R.A. 1981. Adrenoleukodystrophy: Evidence for X-linkage, inactivation and selection favoring the mutant allele in heterozygous cells. Proc. Natl. Acad. Sci. USA 78:5066-70. · DOI
  62. Gartner, J., Jimenez-Sanchez, G., Roerig, P., and Valle, D. 1998. Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1). Genomics 48(2):203-8. · DOI
  63. Pinkel, D., Straume, T., and Gray, J.W. 1986. Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization. Proc. Natl. Acad. Sci. 83:2934-8. · DOI
  64. Watkins, P.A., Ferrell, E.V., Pedersen, J.I., and Hoefler, G. 1991. Peroxisomal fatty acid beta-oxidation in HepG2 cells. Arch. Biochem. Biophys. 289(2):329-36. · DOI · Paper page
  65. Barcelo, A., Giros, M., Sarde, C.O., Martinez-Bermejo, X., Mandel, J.L., Pampols, T., and Estivill, X. 1994. Identification of a new framshift mutation (1801delAG) in the ALD gene. Hum. Mol. Genet. 3:1889-90. · DOI
  66. Takano, H., Koika, R., Onodera, O., Sasaki, R., and Tsuji, S. 1998. Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy (ALD). Arch. Neurol.: in press. · DOI
  67. Osaka, H., Sekiguchi, H., Inoue, K., Ikuta, K., Sakakihara, Y., Oka, A., Onishi, T., Miyakawa, T., Suzuki, K., Kimura, S., Kosaka, K., and Matsuyama, S. 1998. A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation. J. Inher. Metab. Dis. 21:162-6. · DOI
  68. Holzinger, A., Kammerer, S., Berger, J., and Roscher, A.A. 1997. cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter. Biochem. Biophys. Res. Commun. 239(1):261-4. · DOI · Paper page

Cited by

Sorted by citations

Metadata

Authors
Smith, K. D., Kemp, S., Braiterman, L. T., Lu, J.-F., Wei, H.-M., Geraghty, M., Stetten, G., Bergin, J. S., Pevsner, J., & Watkins, P. A.
Affiliations
  • Kennedy Krieger Institute (US)
  • Johns Hopkins University (US)
Corresponding author
Smith, Kirby D.
ORCID
Venue
Neurochemical Research
Publisher
Springer Science and Business Media LLC
Published
1999-04
Volume
24
Issue
4
Pages
521-535
ISSN
  • 0364-3190 (ISSN-L)
  • 1573-6903
DOI
10.1023/a:1022535930009
OpenAlex
W1481406810
Cited by
190
References
8
Citations by year
2025: 3 · 2024: 5 · 2023: 3 · 2022: 5 · 2021: 2 · 2020: 3 · 2019: 1 · 2018: 2 · 2017: 6 · 2016: 4 · 2015: 5 · 2014: 5 · 2013: 4 · 2012: 6
FWCI
1.72
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • Neurochemical Research (publishedVersion)
  • PubMed (publishedVersion)
  • Pure Amsterdam UMC (publishedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
Funders
  • Myelin Project
  • National Institutes of Health (1r01dk051149-01)
  • National Institute of Diabetes and Digestive and Kidney Diseases (DK51149)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD24061, HD-10981, P30HD024061, P01HD010981)
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 › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords
X-linked adrenoleukodystrophy, ALDP, ABC transporters, peroxisomal membrane proteins, very long chain fatty acids, peroxisome biogenesis, genotype-phenotype correlation, protein dimerization, clinical heterogeneity, neurodegeneration
MeSH terms
Adrenoleukodystrophy, Humans, Genetic Linkage, Mutation, Phenotype, X Chromosome

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