Results 71 to 80 of about 1,111 (177)

Loss of central auditory processing in a mouse model of Canavan disease.

PLoS ONE, 2014
Canavan Disease (CD) is a leukodystrophy caused by homozygous null mutations in the gene encoding aspartoacylase (ASPA). ASPA-deficiency is characterized by severe psychomotor retardation, and excessive levels of the ASPA substrate N-acetylaspartate (NAA)
Georg von Jonquieres, Kristina E Froud, Claudia B Klugmann, Ann C Y Wong, Gary D Housley, Matthias Klugmann   +5 more
doaj   +1 more source

Deficient brain GABA metabolism leads to widespread impairments of astrocyte and oligodendrocyte function

Glia, Volume 72, Issue 10, Page 1821-1839, October 2024.
Main Points Glial dysfunction is intimately linked to SSADH deficiency pathology. Astrocyte metabolism, glutamine synthesis and neurotransmitter recycling are severely perturbed. Oligodendrocyte associated proteins and myelin‐enriched sphingolipids are depleted. Abstract The neurometabolic disorder succinic semialdehyde dehydrogenase (SSADH) deficiency
Jens V. Andersen, Oana C. Marian, Filippa L. Qvist, Emil W. Westi, Blanca I. Aldana, Arne Schousboe, Anthony S. Don, Niels H. Skotte, Petrine Wellendorph   +8 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, Efsun Gargun Sizmaz, M. Ozlem Herguner, Sakir Altunbasak   +3 more
doaj  

Glial promoter selectivity following AAV-delivery to the immature brain.

PLoS ONE, 2013
Recombinant adeno-associated virus (AAV) vectors are versatile tools for gene transfer to the central nervous system (CNS) and proof-of-concept studies in adult rodents have shown that the use of cell type-specific promoters is sufficient to target AAV ...
Georg von Jonquieres, Nadine Mersmann, Claudia Bettina Klugmann, Anne Editha Harasta, Beat Lutz, Orla Teahan, Gary David Housley, Dominik Fröhlich, Eva-Maria Krämer-Albers, Matthias Klugmann   +9 more
doaj   +1 more source

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, Ruiting Li, Zilin Zhu, Yang Yang, Fang Lu   +4 more
wiley   +1 more source

Canavan disease: Isolation and characterization of aspartoacylase.

, 1992
Canavan disease: Isolation and characterization of ...
Jose Maria. Casanova (7973579)
core  

A rare case of a long-lived patient with Canavan syndrome

Brain Disorders
This 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, Salvatore Dongiovanni, Michelangelo Carucci, Valentina Andreozzi, Connye Mattera, Federica Quadro, Gennaro Calafiore, Sabrina Gentile, Nicoletta Liardi   +8 more
doaj   +1 more source

Linking mechanistic and behavioral responses to sublethal esfenvalerate exposure in the endangered delta smelt; Hypomesus transpacificus (Fam. Osmeridae)

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, D'Abronzo Leandro S, Loguinov Alexander V, Pfeiff Janice, Geist Juergen, Connon Richard E, Vulpe Christopher D, Werner Inge   +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, Lihua Wang‐Eckhardt, Matthias Eckhardt   +2 more
wiley   +1 more source

New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.

, 2013
OBJECTIVE: Canavan disease (OMIM 271900) is a severe autosomal recessive neurodegenerative disorder characterized by spongy degeneration of the brain and caused by mutations in the gene encoding for aspartoacylase (ASPA).
Di Pietro, Valentina; id_orcid
core   +2 more sources