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 …

X‐linked adrenoleukodystrophy: pathology, pathophysiology, diagnostic testing, newborn screening and therapies

BR Turk, C Theda, A Fatemi… - International Journal of …, 2020 - Wiley Online Library
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 …

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

M Engelen, S Kemp, M De Visser, BM van Geel… - Orphanet journal of rare …, 2012 - Springer
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 human ATP-binding cassette (ABC) transporter superfamily

M Dean, Y Hamon, G Chimini - Journal of lipid research, 2001 - ASBMB
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 …

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 …

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 …

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 …

[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 …

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 …

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 …