Results 31 to 40 of about 888 (137)

Extensive aspartoacylase expression in the rat central nervous system [PDF]

Glia, 2011
Aspartoacylase (ASPA) catalyzes deacetylation of N-acetylaspartate (NAA) to generate acetate and aspartate. Mutations in the gene for ASPA lead to reduced acetate availability in the CNS during development resulting in the fatal leukodystrophy Canavan disease.
John R, Moffett, Peethambaran, Arun, Prasanth S, Ariyannur, James Y, Garbern, David M, Jacobowitz, Aryan M A, Namboodiri   +5 more
openaire   +2 more sources

A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination

Disease Models & Mechanisms, 2014
Canavan disease is a leukodystrophy caused by mutations in the ASPA gene. This gene encodes the enzyme that converts N-acetylaspartate into acetate and aspartic acid.
Marina R. Carpinelli, Anne K. Voss, Michael G. Manning, Ashwyn A. Perera, Anne A. Cooray, Benjamin T. Kile, Rachel A. Burt   +6 more
doaj   +1 more source

A Novel Homozygous Variant in the Aspartoacylase Gene Causes Canavan Disease-Case Report

Journal of Pediatric Research
Glu178 is the active site residue essential for substrate affinity and catalytic activity of the aspartoacylase enzyme. Sanger sequencing in an infant with Canavan disease revealed a homozygous ASPA: c.532G>A: p. (Glu178Lys) variant.
Archana Vaddinahalli Kariyappa, Shilpa Krishnapura Lakshminarayana, Dhanalakshmi Kumble, Kavitha Siddappa, Kalpana Ramesh Yelsangikar, Mallesh Kariyappa, Thotakura Pranga Lakshmi, Ashwin Dalal   +7 more
doaj   +1 more source

Identification and Characterization of Hypothalamic Alternative Splicing Events and Variants in Ovine Fecundity-Related Genes

Animals, 2020
Previous studies revealed that alternative splicing (AS) events and gene variants played key roles in reproduction; however, their location and distribution in hypothalamic fecundity-related genes in sheep without the FecB mutation remain largely unknown.
Zhuangbiao Zhang, Jishun Tang, Xiaoyun He, Ran Di, Xiaosheng Zhang, Jinlong Zhang, Wenping Hu, Mingxing Chu   +7 more
doaj   +1 more source

Noninvasive 11.7‐T Magnetic Resonance Spectroscopy and Imaging Reveals Retinal Metabolic Alterations Induced by Blue Light Exposure

NMR in Biomedicine, Volume 39, Issue 3, March 2026.
Retinal metabolic changes were analyzed using proton magnetic resonance spectroscopy (1H‐MRS), marking an initial application of this non‐invasive method on living eyes. Key metabolites were identified within the retinal region of adult rats. The observed changes following intense blue light exposure were predominantly attributable to the retina, as it
Lacramioara Samoila, Alexandru Farcasanu, Simion Simon, Ede Bodoki, Ovidiu Samoila, Oliviu Vostinaru, Elena Dinte, Andreea Elena Bodoki, Dan Iudean, Calin Muresan, Simona Clichici   +10 more
wiley   +1 more source

Breast Cancer Brain Metastasis: Bridging Biological Mechanisms to Therapeutic Innovations

MedComm – Oncology, Volume 4, Issue 4, December 2025.
Breast cancer brain metastasis (BCBrM) is driven by a multistep metastatic cascade and shaped by dynamic tumor–brain interactions. This review integrates current mechanistic insights, from molecular signaling pathways to immune evasion, and evaluates preclinical models and emerging therapies.
Jing Feng, Yuwei Tao, Fengkai Li, Suling Liu   +3 more
wiley   +1 more source

The natural history of Canavan disease: 23 new cases and comparison with patients from literature

Orphanet Journal of Rare Diseases, 2021
Background Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was studied retrospectively and ...
Annette Bley, Jonas Denecke, Alfried Kohlschütter, Gerhard Schön, Sandra Hischke, Philipp Guder, Tatjana Bierhals, Heather Lau, Maja Hempel, Florian S. Eichler   +9 more
doaj   +1 more source

Aspartoacylase gene knockout results in severe vacuolation in the white matter and gray matter of the spinal cord in the mouse

Neurobiology of Disease, 2005
Canavan disease (CD) is a neurodegenerative disorder characterized by the spongy degeneration of the white matter of the brain. Aspartoacylase (ASPA) gene mutation resulting enzyme deficiency is the basic cause of CD.
Sankar Surendran, Gerald A. Campbell, Stephen K. Tyring, Reuben Matalon   +3 more
doaj   +1 more source

Acidic Nanoparticles Prevent HIV Pre‐Exposure Prophylaxis (PrEP)‐Induced Oligodendrocyte Impairments by Restoring Lysosomal pH in Adolescent Models

Glia, Volume 73, Issue 10, Page 1967-1988, October 2025.
Main Points Pre‐exposure prophylaxis (PrEP) inhibits oligodendrocyte differentiation PrEP inhibits oligodendrocyte differentiation through lysosome deacidification Acidic nanoparticles prevent PrEP‐induced inhibition of oligodendrocyte differentiation ABSTRACT A disproportionate percentage of adolescents are diagnosed with human immunodeficiency virus (
Caela C. Long, Lindsay K. Festa, Melanie Cruz‐Berrios, Teshawn D. Johnson, Claire H. Mitchell, Kelly L. Jordan‐Sciutto, Judith B. Grinspan   +6 more
wiley   +1 more source

A Novel Mutation in Aspartoacylase Gene; Canavan Disease.

Iranian journal of child neurology, 2015
Objective Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. Aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination and brain edema. Although CD is a very common in Ashkenazi Jews patients, several cases have been reported from non-Jewish population. This report is based on a
ASHRAFI, Mahmoodreza, TAVASOLI, Alireza, KATIBEH, Pegah, ARYANI, Omid, VAFAEE-SHAHI, Mohammad   +4 more
openaire   +2 more sources