Results 111 to 120 of about 3,353 (190)

ABCD1-Related Disease Presenting as an Upper Motor Neuron-Predominant Amyotrophic Lateral Sclerosis Mimic in a Colombian Female Heterozygote: A Case Report. [PDF]

Cureus
Correa-Arrieta C, Castellar Leones SM, Bernal-Vergara M, Saiz-Briceño M, Diaz-Ruiz J, Ortiz-Corredor F.   +5 more
europepmc   +1 more source

ABCD1 Gene Therapy for X-linked Adrenoleukodystrophy Dementia

ABCD1 scores 0.88 in Open Targets and maps to peroxisome pathway (KEGG: hsa04146) and ABC transporters (hsa02010). ClinVar shows multiple ABCD1 variants. Gene therapy could restore peroxisomal function and prevent demyelination-associated cognitive decline in X-ALD.
openaire   +1 more source

Histone Deacetylase Inhibitor Upregulates Peroxisomal Fatty Acid Oxidation And Inhibits Apoptotic Cell Death In Abcd1-deficient Glial Cells

In X-ALD, mutation/deletion of ALD gene (ABCD1) and the resultant very long chain fatty acid (VLCFA) derangement has dramatically opposing effects in astrocytes and oligodendrocytes.
Pujol Onofre, Aurora, Khan, Mushfiquddin, Singh, Jaspreet, Singh, Inderjit, Baarine, Mauhamad   +4 more
core  

An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation

Journal of Genetic Medicine, 2013
Soon-Jung Shin, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo   +5 more
openaire   +2 more sources

Peroxisomal fatty acid oxidation-related signature for predicting prognosis and therapeutic response in low-grade glioma. [PDF]

Front Oncol
Zhou X, Liang H, Huang Q.
europepmc   +1 more source

Primary adrenal insufficiency resulting in diagnosis of rare <i>ABCD1</i> pathogenic variant in X-linked adrenoleukodystrophy. [PDF]

JCEM Case Rep
Jin A, Bhatnagar A, Bryant A, Soe K.
europepmc   +1 more source

Attitudes Toward Sex-Specific Versus Universal Newborn Screening for X-Linked Adrenoleukodystrophy in Hong Kong. [PDF]

Int J Neonatal Screen
Mak CM, Wu HY, Wong AY, Song FE, Chan TCH, Fung CW, Wong SN, Hau EWL, Yeung MCW.   +8 more
europepmc   +1 more source

X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report. [PDF]

J Int Med Res
Chang MC, Yang S.
europepmc   +1 more source

The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
Lund TC, Miettunen K, Jaspers YRJ, Bergner C, Bonkowsky JL, Bruschi F, Cohen JS, Dijkstra IME, Eichler FS, Mallack EJ, Salomons GS, Thompson R, Tonduti D, van Haren KP, Wamelink MMC, Zerem A, Engelen M, Kemp S.   +17 more
europepmc   +1 more source

Profiling of fatty acids and lipids in animal and human tissues yields new leads for disease progression biomarkers of X-linked adrenoleukodystrophy. [PDF]

J Biol Chem
Kloss A, Parisi L, Wang D, Hanus M, Golden R, Keefe K, Chiang R, Li Y, Brezzani A, Lang P, Kayatekin C, Gladysheva T.   +11 more
europepmc   +1 more source