Year |
Citation |
Score |
2012 |
Brose RD, Shin G, McGuinness MC, Schneidereith T, Purvis S, Dong GX, Keefer J, Spencer F, Smith KD. Activation of the stress proteome as a mechanism for small molecule therapeutics. Human Molecular Genetics. 21: 4237-52. PMID 22752410 DOI: 10.1093/Hmg/Dds247 |
0.74 |
|
2012 |
Brose RD, Avramopoulos D, Smith KD. SOD2 as a potential modifier of X-linked adrenoleukodystrophy clinical phenotypes. Journal of Neurology. 259: 1440-7. PMID 22218650 DOI: 10.1007/S00415-011-6371-8 |
0.366 |
|
2007 |
Lu JF, Barron-Casella E, Deering R, Heinzer AK, Moser AB, deMesy Bentley KL, Wand GS, C McGuinness M, Pei Z, Watkins PA, Pujol A, Smith KD, Powers JM. The role of peroxisomal ABC transporters in the mouse adrenal gland: the loss of Abcd2 (ALDR), Not Abcd1 (ALD), causes oxidative damage. Laboratory Investigation; a Journal of Technical Methods and Pathology. 87: 261-72. PMID 17260006 DOI: 10.1038/Labinvest.3700512 |
0.756 |
|
2006 |
Keefer JR, Schneidereith TA, Mays A, Purvis SH, Dover GJ, Smith KD. Role of cyclic nucleotides in fetal hemoglobin induction in cultured CD34+ cells. Experimental Hematology. 34: 1151-61. PMID 16939808 DOI: 10.1016/J.Exphem.2006.03.018 |
0.69 |
|
2005 |
Powers JM, Pei Z, Heinzer AK, Deering R, Moser AB, Moser HW, Watkins PA, Smith KD. Adreno-leukodystrophy: oxidative stress of mice and men. Journal of Neuropathology and Experimental Neurology. 64: 1067-79. PMID 16319717 DOI: 10.1097/01.jnen.0000190064.28559.a4 |
0.759 |
|
2005 |
Keefer JR, McGuinness MC, Dong GX, Dover GJ, Smith KD. Pharmacological Therapy of Inherited Disease. Blood. 106: 3179-3179. DOI: 10.1182/Blood.V106.11.3179.3179 |
0.359 |
|
2005 |
Keefer JR, Purvis SH, Dover GJ, Smith KD. Analysis of the X-Linked F-Cell Production Locus. Blood. 106: 3178-3178. DOI: 10.1182/Blood.V106.11.3178.3178 |
0.315 |
|
2004 |
Jia Z, Pei Z, Li Y, Wei L, Smith KD, Watkins PA. X-linked adrenoleukodystrophy: role of very long-chain acyl-CoA synthetases. Molecular Genetics and Metabolism. 83: 117-27. PMID 15464426 DOI: 10.1016/J.Ymgme.2004.06.015 |
0.48 |
|
2003 |
Heinzer AK, McGuinness MC, Lu JF, Stine OC, Wei H, Van der Vlies M, Dong GX, Powers J, Watkins PA, Smith KD. Mouse models and genetic modifiers in X-linked adrenoleukodystrophy. Advances in Experimental Medicine and Biology. 544: 75-93. PMID 14713218 DOI: 10.1007/978-1-4419-9072-3_12 |
0.739 |
|
2003 |
Pei Z, Oey NA, Zuidervaart MM, Jia Z, Li Y, Steinberg SJ, Smith KD, Watkins PA. The acyl-CoA synthetase "bubblegum" (lipidosin): further characterization and role in neuronal fatty acid beta-oxidation.. The Journal of Biological Chemistry. 278: 47070-8. PMID 12975357 DOI: 10.1074/jbc.M310075200 |
0.32 |
|
2003 |
Heinzer AK, Watkins PA, Lu JF, Kemp S, Moser AB, Li YY, Mihalik S, Powers JM, Smith KD. A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy. Human Molecular Genetics. 12: 1145-54. PMID 12719378 DOI: 10.1093/hmg/ddg126 |
0.787 |
|
2003 |
McGuinness MC, Lu JF, Zhang HP, Dong GX, Heinzer AK, Watkins PA, Powers J, Smith KD. Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy. Molecular and Cellular Biology. 23: 744-53. PMID 12509471 DOI: 10.1128/Mcb.23.2.744-753.2003 |
0.768 |
|
2002 |
Heinzer AK, Kemp S, Lu JF, Watkins PA, Smith KD. Mouse very long-chain acyl-CoA synthetase in X-linked adrenoleukodystrophy. The Journal of Biological Chemistry. 277: 28765-73. PMID 12048192 DOI: 10.1074/Jbc.M203053200 |
0.778 |
|
2002 |
Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, et al. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. American Journal of Human Genetics. 70: 1520-31. PMID 11992258 DOI: 10.1086/340849 |
0.419 |
|
2002 |
Mihalik SJ, Steinberg SJ, Pei Z, Park J, Kim DG, Heinzer AK, Dacremont G, Wanders RJ, Cuebas DA, Smith KD, Watkins PA. Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recycling. The Journal of Biological Chemistry. 277: 24771-9. PMID 11980911 DOI: 10.1074/Jbc.M203295200 |
0.739 |
|
2001 |
McGuinness MC, Zhang HP, Smith KD. Evaluation of pharmacological induction of fatty acid beta-oxidation in X-linked adrenoleukodystrophy. Molecular Genetics and Metabolism. 74: 256-63. PMID 11592822 DOI: 10.1006/Mgme.2001.3239 |
0.495 |
|
2001 |
Chang YP, Littera R, Garau R, Smith KD, Dover GJ, Iannelli S, Cacace E, Contu L. The role of heterocellular hereditary persistence of fetal haemoglobin in beta(0)-thalassaemia intermedia. British Journal of Haematology. 114: 899-906. PMID 11564083 DOI: 10.1046/J.1365-2141.2001.03042.X |
0.333 |
|
2001 |
Bezman L, Moser AB, Raymond GV, Rinaldo P, Watkins PA, Smith KD, Kass NE, Moser HW. Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening Annals of Neurology. 49: 512-517. DOI: 10.1002/Ana.101 |
0.331 |
|
2000 |
Watkins PA, Lu JF, Braiterman LT, Steinberg SJ, Smith KD. Disruption of a yeast very-long-chain acyl-CoA synthetase gene simulates the cellular phenotype of X-linked adrenoleukodystrophy. Cell Biochemistry and Biophysics. 32: 333-7. PMID 11330068 DOI: 10.1385/Cbb:32:1-3:333 |
0.456 |
|
2000 |
Steinberg SJ, Morgenthaler J, Heinzer AK, Smith KD, Watkins PA. Very long-chain acyl-CoA synthetases. Human "bubblegum" represents a new family of proteins capable of activating very long-chain fatty acids. The Journal of Biological Chemistry. 275: 35162-9. PMID 10954726 DOI: 10.1074/Jbc.M006403200 |
0.751 |
|
2000 |
Lachtermacher MB, Seuánez HN, Moser AB, Moser HW, Smith KD. Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. Human Mutation. 15: 348-53. PMID 10737980 DOI: 10.1002/(Sici)1098-1004(200004)15:4<348::Aid-Humu7>3.0.Co;2-N |
0.408 |
|
2000 |
Wei H, Kemp S, McGuinness MC, Moser AB, Smith KD. Pharmacological induction of peroxisomes in peroxisome biogenesis disorders Annals of Neurology. 47: 286-296. DOI: 10.1002/1531-8249(200003)47:3<286::Aid-Ana3>3.0.Co;2-B |
0.39 |
|
1999 |
McGuinness MC, Smith KD. Cerebral inflammation in X-linked adrenoleukodystrophy Archivum Immunologiae Et Therapiae Experimentalis. 47: 281-287. PMID 10604233 |
0.312 |
|
1999 |
Smith KD, Kemp S, Braiterman LT, Lu JF, Wei HM, Geraghty M, Stetten G, Bergin JS, Pevsner J, Watkins PA. X-linked adrenoleukodystrophy: genes, mutations, and phenotypes. Neurochemical Research. 24: 521-35. PMID 10227685 DOI: 10.1023/A:1022535930009 |
0.44 |
|
1999 |
Braiterman LT, Watkins PA, Moser AB, Smith KD. Peroxisomal very long chain fatty acid beta-oxidation activity is determined by the level of adrenodeukodystrophy protein (ALDP) expression. Molecular Genetics and Metabolism. 66: 91-9. PMID 10068511 DOI: 10.1006/Mgme.1998.2789 |
0.467 |
|
1998 |
Kemp S, Wei HM, Lu JF, Braiterman LT, McGuinness MC, Moser AB, Watkins PA, Smith KD. Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy. Nature Medicine. 4: 1261-8. PMID 9809549 DOI: 10.1038/3242 |
0.478 |
|
1998 |
Watkins PA, Lu JF, Steinberg SJ, Gould SJ, Smith KD, Braiterman LT. Disruption of the Saccharomyces cerevisiae FAT1 gene decreases very long-chain fatty acyl-CoA synthetase activity and elevates intracellular very long-chain fatty acid concentrations. The Journal of Biological Chemistry. 273: 18210-9. PMID 9660783 DOI: 10.1074/Jbc.273.29.18210 |
0.392 |
|
1998 |
Braiterman LT, Zheng S, Watkins PA, Geraghty MT, Johnson G, McGuinness MC, Moser AB, Smith KD. Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins Human Molecular Genetics. 7: 239-247. PMID 9425230 DOI: 10.1093/Hmg/7.2.239 |
0.4 |
|
1997 |
McGuinness MC, Powers JM, Bias WB, Schmeckpeper BJ, Segal AH, Gowda VC, Wesselingh SL, Berger J, Griffin DE, Smith KD. Human leukocyte antigens and cytokine expression in cerebral inflammatory demyelinative lesions of X-linked adrenoleukodystrophy and multiple sclerosis. Journal of Neuroimmunology. 75: 174-82. PMID 9143252 DOI: 10.1016/S0165-5728(97)00020-9 |
0.313 |
|
1996 |
BRAITERMAN LT, ZHENG S, WATKINS PA, JOHNSON G, MOSER AB, MOSER HW, SMITH KD. Functional Studies of the X-linked Adrenoleukodystrophy Protein Annals of the New York Academy of Sciences. 804: 763-764. DOI: 10.1111/J.1749-6632.1996.Tb18694.X |
0.334 |
|
1996 |
Watkins PA, Gould SJ, Smith MA, Braiterman LT, Wei HM, Kok F, Moser B, Moser HW, Smith KD. Expression of ALDP is altered in X-linked adrenoleukodystrophy Annals of the New York Academy of Sciences. 804: 760-762. DOI: 10.1111/J.1749-6632.1996.Tb18693.X |
0.345 |
|
1995 |
Kok F, Neumann S, Sarde CO, Zheng S, Wu KH, Wei HM, Bergin J, Watkins PA, Gould S, Sack G, Moser H, Mandel JL, Smith KD. Mutational analysis of patients with X-linked adrenoleukodystrophy Human Mutation. 6: 104-115. PMID 7581394 DOI: 10.1002/Humu.1380060203 |
0.358 |
|
1995 |
Chang Y, Smith K, Moore R, Serjeant G, Dover G. An analysis of fetal hemoglobin variation in sickle cell disease: the relative contributions of the X-linked factor, beta-globin haplotypes, alpha-globin gene number, gender, and age Blood. 85: 1111-1117. DOI: 10.1182/Blood.V85.4.1111.Bloodjournal8541111 |
0.327 |
|
1994 |
Fechner PY, Rosenberg C, Stetten G, Cargile CB, Pearson PL, Smith KD, Migeon CJ, Berkovitz GD. Nonrandom inactivation of the Y-bearing X chromosome in a 46,XX individual: evidence for the etiology of 46,XX true hermaphroditism. Cytogenetics and Cell Genetics. 66: 22-6. PMID 8275702 DOI: 10.1159/000133656 |
0.312 |
|
1993 |
Fechner PY, Marcantonio SM, Ogata T, Rosales TO, Smith KD, Goodfellow PN, Migeon CJ, Berkovitz GD. Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. The Journal of Clinical Endocrinology and Metabolism. 76: 1248-53. PMID 8496317 DOI: 10.1210/Jcem.76.5.8496317 |
0.374 |
|
1993 |
Fechner PY, Marcantonio SM, Jaswaney V, Stetten G, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz GD, Amrhein JA, Bard PA. The role of the sex-determining region Y gene in the etiology of 46,XX maleness. The Journal of Clinical Endocrinology and Metabolism. 76: 690-5. PMID 8383144 DOI: 10.1210/Jcem.76.3.8383144 |
0.318 |
|
1992 |
Berkovitz GD, Fechner PY, Marcantonio SM, Bland G, Stetten G, Goodfellow PN, Smith KD, Migeon CJ. The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism. Human Genetics. 88: 411-416. PMID 1740318 DOI: 10.1007/Bf00215675 |
0.31 |
|
1992 |
Moser HW, Moser AB, Smith KD, Bergin A, Borel J, Shankroff J, Stine OC, Merette C, Ott J, Krivit W. Adrenoleukodystrophy: phenotypic variability and implications for therapy. Journal of Inherited Metabolic Disease. 15: 645-64. PMID 1528023 DOI: 10.1007/Bf01799621 |
0.366 |
|
1992 |
Fechner PY, Smith KD, Jabs EW, Migeon CJ, Berkovitz GD. Partial gonadal dysgenesis in a patient with a marker Y chromosome. American Journal of Medical Genetics. 42: 807-12. PMID 1313209 DOI: 10.1002/Ajmg.1320420612 |
0.323 |
|
1985 |
Schmeckpeper BJ, Davis J, Willard HF, Smith KD. An anonymous single-copy X-chromosome RFLP for DXS72 from Xq13-Xq22 [HGM8 provisional no. DXS72]. Nucleic Acids Research. 13: 5724. PMID 4041033 DOI: 10.1093/Nar/13.15.5724 |
0.305 |
|
1981 |
Schmeckpeper BJ, Willard HF, Smith KD. Isolation and characterization of cloned human DNA fragments carrying reiterated sequences common to both autosomes and the X chromosome. Nucleic Acids Research. 9: 1853-72. PMID 6264397 DOI: 10.1093/Nar/9.8.1853 |
0.314 |
|
1980 |
Phillips JA, Panny SR, Kazazian HH, Boehm CD, Scott AF, Smith KD. Prenatal diagnosis of sickle cell anemia by restriction and endonuclease analysis: HindIII polymorphisms in gamma-globin genes extend test applicability. Proceedings of the National Academy of Sciences of the United States of America. 77: 2853-6. PMID 6248872 DOI: 10.1073/Pnas.77.5.2853 |
0.31 |
|
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