Results 21 to 30 of about 3,353 (190)

ABCD1 Gene Mutations in Chinese Patients with ALD

Pediatric Neurology Briefs, 2005
Thirty-two different ABCD1 mutations were identified by direct sequencing of polymerase chain reaction products in 34 unrelated Chinese X-linked adrenoleukodystrophy (ALD) patients examined at Peking University First Hospital, Beijing ...
J Gordon Millichap, J Gordon Millichap
core   +5 more sources

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms [PDF]

Orphanet Journal of Rare Diseases, 2012
Background Approximately 20% of adrenoleukodystrophy (X-ALD) female carriers may develop clinical manifestations, typically consisting of progressive spastic gait, sensory deficits and bladder dysfunctions.
Salsano Ettore, Tabano Silvia, Sirchia Silvia M, Colapietro Patrizia, Castellotti Barbara, Gellera Cinzia, Rimoldi Marco, Pensato Viviana, Mariotti Caterina, Pareyson Davide, Miozzo Monica, Uziel Graziella   +11 more
doaj   +2 more sources

Gene Therapy of Adrenomyeloneuropathy: Challenges, Target Cells, and Prospectives [PDF]

Biomedicines
Gene replacement using adeno-associated viral (AAV) vectors has become a major therapeutic avenue for neurodegenerative diseases (NDD). In single-gene diseases with loss-of-function mutations, the objective of gene therapy is to express therapeutic ...
Pierre Bougnères, Catherine Le Stunff, Romina Aron Badin   +2 more
doaj   +2 more sources

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing [PDF]

npj Genomic Medicine
Somatic mosaicism produces genetic differences between cells in an individual and is an underrecognized contributor to phenotypic variability. Precise understanding of the natural history of genetic diseases, therefore, requires detection and recognition
Alexandra C. Keefe, Dana M. Jensen, Meranda M. Pham, Natalie Y T Au, Erika Beckman, Monica Penon-Portmann, Emily Shelkowitz, Renee Bend, Michelle M. Morrow, Paul Kruszka, Divya Vats, Bianca E. Russell, Erica Chan, Derek Wong, Ahna Rabani, Lauren O’Grady, Inderneel Sahai, Kimberly Widmeyer, Ethan D. Sperry, Barbara E. Hallinan, Rebecca Tryon, Troy C. Lund, Florian S. Eichler, Angela Sun, James T. Bennett   +24 more
doaj   +2 more sources

Overview of genetic mutations causing adrenoleukodystrophy: A case-series study [PDF]

Molecular Genetics and Metabolism Reports
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder resulted from mutations in the ABCD1 gene located at the Xq28 locus. This gene encodes a transporter protein responsible for importing very-long-chain fatty acids into peroxisomes. This research
Mohadeseh Fathi, Sheyda Khalilian, Arezou Sayad, Parvaneh Karimzadeh, Farzad Ahmadabadi, Soudeh Ghafouri-Fard, Mohammad Miryounesi   +6 more
doaj   +2 more sources

A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family [PDF]

Brain and Behavior, 2019
Background Adrenomyeloneuropathy (AMN) is a rare genetic disease. In this study, a case of AMN was uncovered in a Chinese family. Methods Clinical manifestations were collected and observed through medical records, physical examination, laboratory tests,
Chao Wang, Hongchao Liu, Bing Han, Hui Zhu, Jingyao Liu   +4 more
doaj   +3 more sources

X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling [PDF]

Balkan Journal of Medical Genetics
X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder caused by mutations in the adenosine triphosphate-binding cassette D1 (ABCD1) gene. In this study, we report the case of a Moroccan patient diagnosed with X-ALD due to a mutation
Mansouri M, Smol T, Louhabe N, Rama M, Rada N, Fdil N, Bouskraoui M, Aboussair N   +7 more
doaj   +2 more sources

ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy

The Application of Clinical Genetics, 2022
Pathogenic variants in the ABCD1 gene on the X chromosome may result in widely heterogenous phenotypes, including adrenomyeloneuropathy (AMN). Affected males typically present in their third or fourth decade of life with progressive lower limb weakness and spasticity, and may develop signs and symptoms of adrenal insufficiency and/or cerebral ...
Alyssa M Volmrich, Lauren M Cuénant, Irman Forghani, Sharon L Hsieh, Lauren T Shapiro   +4 more
openaire   +5 more sources

Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia

Cells, 2022
Mutations in the peroxisomal half-transporter ABCD1 cause X-linked adrenoleukodystrophy, resulting in elevated very long-chain fatty acids (VLCFA), progressive neurodegeneration and an associated pain syndrome that is poorly understood.
Yi Gong, Fiza Laheji, Anna Berenson, April Qian, Sang-O Park, Rene Kok, Martin Selig, Ryan Hahn, Reza Sadjadi, Stephan Kemp, Florian Eichler   +10 more
doaj   +1 more source

Novel Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease [PDF]

Endocrinology and Metabolism, 2020
X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1).
Yun Kyung Cho, Seo-Young Lee, Sang-Wook Kim   +2 more
doaj   +1 more source