Neurometabolic Diseases Lab

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61 Schilder's disease a heterogenous group of disorders known as X-linked adrenoleukodystrophy. Foreword.. MINI-SYMPOSIUM: X - Linked Adrenoleukodystrophy. Brain Pathol. 2010 Jul;20(4):815-6. 996
62 Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. Hum Mol Genet. 2010 May 15;19(10):2005-14. Epub 2010 Feb 23. 1175
63 PeroxisomeDB 2.0: an integrative view of the global peroxisomal metabolome. Nucleic Acids Res. 2010 Jan;38(Database issue):D800-5. 2012
64 Insulin-like Growth Factor-1 and Neurotrophin-3 Gene Therapy Prevents Motor Decline in an X-Linked Adrenoleukodystrophy Mouse Model. ANNALS OF NEUROLOGY. 66, 1, 117-122 (2009) 1026
65 ABCD2 is abundant in adipose tissue and opposes the accumulation of dietary erucic acid (C22:1) in fat. J Lipid Res. 2010 Jan;51(1):162-8. 1534
66 A key role for the peroxisomal Abcd2 transporter in fatty acid homeostasis. American Journal of Physiology. Endocrinology and Metabolism. 296(1):E211-21. (2009) 1072
67 Early oxidative damage underlying neurodegeneration in Xadrenoleukodystrophy. Human Molecular Genetics. Jun 15;17(12):1762-73 (2008) 1007
68 Steroid hormones control circadian Elovl3 expression in mouse liver. Endocrinology. Jun;149(6):3158-66 (2008) 1062
69 The role of peroxisomal ABC transporters in the mouse adrenal gland: the loss of ABCD2 (Aldr), not ABCD1 (ALD) causes oxidative damage. Laboratory Investigation. (2007) 1-12 (2007) 1303
70 PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease. Nucleic Acids Research. Jan 35, D815-22 (2007) 1892
71 The Evolutionary Origin of Peroxisomes:An ER-Peroxisome connection. Molecular Biology and Evolution. 23(4):838-845 (2006) 1881
72 Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage. Human Molecular Genetics. 14 (23) 3565-3577 (2005) 968
73 Functional redundancy between ABCD1(ALD) and ABCD2(ALDR) transporters: a therapeutic target for X-linked adrenoleukodystrophy. Hum Mol Genet. 2997-3006 (2004) 1198
74 Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. Human Molecular Genetics. 2002 Mar 1;11(5):499-505 (2002) 1013
75 ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Human Mutation. Dec;18(6):499-515 (2001) 1302
76 Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolin. Genomics. Nov 15;70(1):131-9 (2000) 868
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