Adrenoleukodystrophy

Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.

September 16, 2021

Infection of Glia by Human Pegivirus Suppresses Peroxisomal and Antiviral Signaling Pathways.

Journal of Virology
M A L DoanC Power
September 11, 2021

X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.

Neuro Endocrinology Letters
Marketa ZemanovaJiri Zeman
September 10, 2021

A Longitudinal Analysis of Early Lesion Growth in Presymptomatic Patients with Cerebral Adrenoleukodystrophy.

AJNR. American Journal of Neuroradiology
E J MallackFlorian S Eichler
September 10, 2021

Differential outcomes for frontal versus posterior demyelination in childhood cerebral adrenoleukodystrophy.

Journal of Inherited Metabolic Disease
Ashish O GuptaElizabeth I Pierpont
September 4, 2021
Preprint
Open Access

Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment

BioRxiv : the Preprint Server for Biology
L. T. M. LeAmer Alam
August 31, 2021

Magnetic resonance spectroscopy as marker for neurodegeneration in X-linked adrenoleukodystrophy.

NeuroImage. Clinical
Stephanie I W van de StadtMarc Engelen
August 28, 2021
Review
Open Access

Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan.

International Journal of Neonatal Screening
Nobuyuki ShimozawaHidenori Ohnishi
August 27, 2021
Open Access

Glycosphingolipids with Very Long-Chain Fatty Acids Accumulate in Fibroblasts from Adrenoleukodystrophy Patients.

International Journal of Molecular Sciences
Yuko FujiwaraKazuaki Yokoyama
August 23, 2021
Review

Elivaldogene Autotemcel: First Approval.

Molecular Diagnosis & Therapy
Susan J Keam
August 22, 2021

Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders.

Acta Neurologica Scandinavica
Markus T SainioHenna Tyynismaa
August 13, 2021

iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations.

Journal of Proteome Research
Amelie S Lotz-HavlaSøren W Gersting
August 12, 2021
Open Access

Cardiac Tamponade in Adrenoleukodystrophy with Addison's Disease.

European Journal of Case Reports in Internal Medicine
Mafalda Sá PereiraPedro Correia Azevedo
August 6, 2021
Open Access

Editorial.

Laryngo- rhino- otologie
Stefan K Plontke
July 17, 2021
Review

Endocrine dysfunction in adrenoleukodystrophy.

Handbook of Clinical Neurology
Marc EngelenFlorian S Eichler
July 9, 2021

Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model.

Neuropathology and Applied Neurobiology
Pablo Ranea-RoblesAurora Pujol

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