Results 71 to 80 of about 7,333,851 (157)

Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X‐Linked Adrenoleukodystrophy

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT X‐linked adrenoleukodystrophy (ALD) is a genetic disorder with neurological and endocrine manifestations, including myelopathy and hypergonadotropic hypogonadism. Many patients experience sexual dysfunction but the underlying cause has not been clarified.
Stephanie I. W. van de Stadt, Aimy M. A. Wessel, Mirjam Langeveld, Marc Engelen, Barbara Sjouke   +4 more
wiley   +1 more source

Atorvastatin Impairs Pathways Associated With Skeletal Muscle Function and Health in Myoblasts From Older Adults

JCSM Communications, Volume 9, Issue 1, January/June 2026.
ABSTRACT Background Statins are widely prescribed to reduce low‐density lipoprotein (LDL) cholesterol to decrease the risk of cardiovascular disease. However, there are ongoing concerns surrounding the frequently reported skeletal muscle side effects. These include muscle pain, weakness and reduced function and are defined as statin‐associated muscle ...
Maisha Chaudhery, Mark A. Burton, Hanan Y. Sharkh, Leo D. Westbury, Elaine M. Dennison, Nicholas C. Harvey, Cyrus Cooper, Harnish P. Patel, Keith M. Godfrey, Karen A. Lillycrop, Emma S. Garratt   +10 more
wiley   +1 more source

Exploring and Validating the Molecular Mechanisms Linking Fatty Acid Metabolism and Sarcopenia

IET Systems Biology, Volume 20, Issue 1, January/December 2026.
This study provides reference for fatty acid metabolism related potential candidate genes for sarcopenia and initially creates an effective machine learning models for further investigating the direction of the mechanism level. ABSTRACT Sarcopenia is an ageing‐related disease characterised primarily by skeletal muscle functional decline.
Ruopeng Yang, Shan Gu, Yang Li, Ping Xia
wiley   +1 more source

Age‐Associated Dysregulation of Postsynaptic Mitochondria Perturbs Reinnervation Kinetics

Aging Cell, Volume 25, Issue 1, January 2026.
We show that aging results in postsynaptic mitochondrial loss at the neuromuscular junction and impaired muscle reinnervation. In vivo CRISPR knockout of mitochondrial genes, CHCHD10 and CHCHD2, in young muscles led to fragmented endplates, aberrant innervation, and impaired transcriptional maturation of sub‐synaptic myonuclei during regeneration ...
Steve D. Guzman, Paula M. Fraczek, Klimentini Itsani, Esraa K. Furati, Devin Juros, Grace Kenney, Gregorio Valdez, Joe V. Chakkalakal, Carlos A. Aguilar   +8 more
wiley   +1 more source

Fulminant Adrenal Crisis as the Initial Healthcare System Presentation of Adolescent Cerebral X‐Linked Adrenoleukodystrophy

CNS Neuroscience &Therapeutics, Volume 32, Issue 4, April 2026.
Junqiu Zhou, Wei Meng, Wei Zhao, Chenguang Shen   +3 more
wiley   +1 more source

Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.

, 2011
X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and adrenal cortex secondary to mutations in the ABCD1 gene that encode the peroxisomal membrane protein.
Surendra Kumar Bansal, Behari Madhuri, Krishna Kant Taneja, Kumar Neeraj, Kalra Veena, Aneja Satinder, Neeraj Kumar, Satinder Aneja, Taneja Krishna Kant, Veena Kalra, Madhuri Behari, Bansal Surendra Kumar   +11 more
core   +1 more source

Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation

Yonsei medical journal, 2014
X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported.
J. Kang, Sang Mi Lee, K. Koo, Young-Mock Lee, H. Nam, Zhejiu Quan, Hoon-Chul Kang   +6 more
semanticscholar   +1 more source

Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. [PDF]

, 2005
We report the molecular findings in 14 patients (12 families) with X-linked adrenoleukodystrophy (X-ALD, MIM# 300100), a well-defined peroxisomal disorder attributed to mutations in the ABCD1 gene on chromosome Xq28.
MONTAGNA G., COLABIANCHI D., SALVATI S., PIANTADOSI C., CAPPA M., DI BIASE A., SANTORELLI F., MELONE, Mariarosa Anna Beatrice, PATRONO C., CANNELLI N., COTRUFO R., ATTORI L.   +11 more
core   +1 more source

CRISPR/Cas9-mediated knockout of Abcd1 and Abcd2 genes in BV-2 cells: novel microglial models for X-linked Adrenoleukodystrophy

, 2019
International audienceX-linked adrenoleukodystrophy (X-ALD), the most frequent peroxisomal disorder, is associated with mutation in the ABCD1 gene which encodes a peroxisomal ATP-binding cassette transporter for very long-chain fatty acids (VLCFA).
Leoni, V., Trompier, D., Savary, S., Hamon, Y., Lizard, G., Raas, Q., Caccia, C., Gondcaille, C., Menetrier, F.   +8 more
core   +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   +3 more sources