Results 61 to 70 of about 888 (137)
Current developments of gene therapy in human diseases
MedComm, Volume 5, Issue 9, September 2024.Gene therapy has seen remarkable advancements in recent decades, demonstrating its immense potential in treating a wide range of genetic and acquired diseases. Several AAV gene therapy products have been introduced to the market, addressing various conditions.
Fanfei Liu +4 more
wiley +1 more source
Canavan Disease: Three case report
Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013 Canavan disease, is an autosomal recessive disorder caused by decreased function of the enzyme aspartoacylase. The clinical symptoms include macrocephaly, hypotonia, developmental delay, seizures, optic atrophy and dystonia.
Faruk Incecik +3 more
doaj
A rare case of a long-lived patient with Canavan syndrome
Brain DisordersThis case report describes the clinical case of a patient with Canavan Syndrome, a condition characterized by high mortality in infancy, who reached the age of 32.
Giuseppe Liardi +8 more
doaj +1 more source
BMC Genomics, 2009 Background The delta smelt (Hypomesus transpacificus) is a pelagic fish species listed as endangered under both the USA Federal and Californian State Endangered Species Acts and considered an indicator of ecosystem health in its habitat range, which is ...
Wintz Henri +7 more
doaj +1 more source
NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model
Journal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 230-243, March 2024.Abstract Canavan disease (CD) is a leukodystrophy caused by mutations in the N‐acetylaspartate (NAA) hydrolase aspartoacylase (ASPA). Inability to degrade NAA and its accumulation in the brain results in spongiform myelin degeneration. NAA is mainly synthesized by neurons, where it is also a precursor of the neuropeptide N‐acetylaspartylglutamate (NAAG)
Ivonne Becker +2 more
wiley +1 more source
PLoS ONE, 2013 Cancer is associated with globally hypoacetylated chromatin and considerable attention has recently been focused on epigenetic therapies. N-acetyl-L-aspartate (NAA), the primary storage form of acetate in the brain, and aspartoacylase (ASPA), the enzyme ...
Patrick M Long +7 more
doaj +1 more source
Use of localized proton nuclear magnetic resonance spectroscopy in Canavan's disease
The Turkish Journal of Pediatrics, 1998 Canavan's disease is characterized by megalencephaly, leukodystrophy and early motor and mental retardation. On computerized tomography and magnetic resonance imaging, severe changes compatible with white matter disease due to demyelination is ...
N Aydinli, M Calişkan, M Calay, M Ozmen
doaj
Structural insights into aspartoacylase deficiency in Canavan disease (769.4)
The FASEB Journal, 2014 Canavan disease (CD) is a fatal neurodegenerative disorder with impaired N‐acetyl‐L‐aspartic acid (NAA) metabolism. This disease is caused by mutations in the ASPA gene, leading to a deficiency in the aspartoacylase (ASPA) enzyme that hydrolyzes NAA in the brain.
Yasanandana Wijayasinghe +2 more
openaire +1 more source
Differential expression of aspartoacylase in cancers of the breast.
, 2021 Breast cancer affects women at relatively high frequency (1). We mined published microarray datasets (2, 3) to determine in an unbiased fashion and at the systems level genes most differentially expressed in the primary tumors of patients with breast cancer. We report here significant differential expression of the gene encoding aspartoacylase, ASPA,
openaire +2 more sources
Ablating the Transporter Sodium-Dependent Dicarboxylate Transporter 3 Prevents Leukodystrophy in Canavan Disease Mice. [PDF]
Ann Neurol, 2021 Wang Y +7 more
europepmc +1 more source