Evaluation of pharmacological induction of fatty acid β-oxidation in X-linked Adrenoleukodystrophy
MC McGuinness, HP Zhang, KD Smith - Molecular genetics and …, 2001 - Elsevier
X-linked adrenoleukodystrophy (X-ALD) is an inherited neurometabolic disorder associated
with elevated levels of saturated unbranched very-long-chain fatty acids (VLCFA; C> 22: 0)
in plasma and tissues, and reduced VLCFA β-oxidation in fibroblasts, white blood cells, and
amniocytes from X-ALD patients. The X-ALD gene (ABCD1) at Xq28 encodes the
adrenoleukodystrophy protein (ALDP) that is related to the peroxisomal ATP-binding
cassette (ABCD) transmembrane half-transporter proteins. The function of ALDP is unknown …
with elevated levels of saturated unbranched very-long-chain fatty acids (VLCFA; C> 22: 0)
in plasma and tissues, and reduced VLCFA β-oxidation in fibroblasts, white blood cells, and
amniocytes from X-ALD patients. The X-ALD gene (ABCD1) at Xq28 encodes the
adrenoleukodystrophy protein (ALDP) that is related to the peroxisomal ATP-binding
cassette (ABCD) transmembrane half-transporter proteins. The function of ALDP is unknown …