Structure and mechanism of human ABC transporters
A Alam, KP Locher - Annual Review of Biophysics, 2023 - annualreviews.org
ABC transporters are essential for cellular physiology. Humans have 48 ABC genes
organized into seven distinct families. Of these genes, 44 (in five distinct families) encode for …
organized into seven distinct families. Of these genes, 44 (in five distinct families) encode for …
X‐linked adrenoleukodystrophy: pathology, pathophysiology, diagnostic testing, newborn screening and therapies
Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the
peroxisomal ABCD1 gene. This review summarizes our current understanding of the …
peroxisomal ABCD1 gene. This review summarizes our current understanding of the …
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Abstract X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder.
The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal …
The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal …
The human ATP-binding cassette (ABC) transporter superfamily
The transport of specific molecules across lipid membranes is an essential function of all
living organisms and a large number of specific transporters have evolved to carry out this …
living organisms and a large number of specific transporters have evolved to carry out this …
Adrenoleukodystrophy–neuroendocrine pathogenesis and redefinition of natural history
S Kemp, IC Huffnagel, GE Linthorst… - Nature Reviews …, 2016 - nature.com
X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly
complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads …
complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads …
Adrenal cortex
PM Stewart - Current Opinion in Endocrinology, Diabetes and …, 1999 - journals.lww.com
Recent years have seen significant advances in our understanding of the development and
function of the adrenal gland together with further insights into the physiologic and …
function of the adrenal gland together with further insights into the physiologic and …
Current and future prospects for gene therapy for rare genetic diseases affecting the brain and spinal cord
TL Jensen, CR Gøtzsche… - Frontiers in molecular …, 2021 - frontiersin.org
In recent years, gene therapy has been raising hopes toward viable treatment strategies for
rare genetic diseases for which there has been almost exclusively supportive treatment. We …
rare genetic diseases for which there has been almost exclusively supportive treatment. We …
[HTML][HTML] X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects
S Kemp, J Berger, P Aubourg - … Et Biophysica Acta (BBA)-Molecular Basis …, 2012 - Elsevier
X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two
main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory …
main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory …
X-linked adrenoleukodystrophy
HW Moser, A Mahmood, GV Raymond - Nature Clinical Practice …, 2007 - nature.com
Abstract X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1,
which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the …
which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the …
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
D Coelho, JC Kim, IR Miousse, S Fung, M du Moulin… - Nature …, 2012 - nature.com
Inherited disorders of vitamin B12 (cobalamin) have provided important clues to how this
vitamin, which is essential for hematological and neurological function, is transported and …
vitamin, which is essential for hematological and neurological function, is transported and …