Results 81 to 90 of about 1,754 (190)

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  

Neuroprotection by diarylpropionitrile in mice with spinal cord injury [PDF]

, 2014
The initial impact of spinal cord injury (SCI) often results in inflammation leading to irreversible damage with consequent loss of locomotor function. Minimal recovery is achieved once permanent damage has occurred.
de Vellis, Jean, Kumar, Shalini, Suwanna, Nirut, Thangnipon, Wipawan   +3 more
core  

AGC1-malate aspartate shuttle activity is critical for dopaminehandling in the nigrostriatal pathway [PDF]

, 2013
This is the pre-peer reviewed version of the following article: Llorente-Folch, I. et al. "AGC1-malate aspartate shuttle activity is critical for dopaminehandling in the nigrostriatal pathway".
Casarejos, María José, Contreras, Laura, Dierssen, Mara, Grau, Josep María, Llorente-Folch, Irene, Mena, María Angeles, Pardo, Beatriz, Saheki, Takeyori, Sahún, Ignasi, Satrústegui, Jorgina   +9 more
core   +2 more sources

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

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

Nurr1 protein is required for N-Methyl-d-aspartic Acid (NMDA) receptor-mediated neuronal survival [PDF]

, 2012
NMDA receptor (NMDAR) stimulation promotes neuronal survival during brain development. Cerebellar granule cells (CGCs) need NMDAR stimulation to survive and develop.
Badiola Benito, Nahuai, Barneda Zahonero, Bruna, Fadó, Rut, Miñano Molina, Alfredo Jesús, Rodríguez Álvarez, José, Saura Antolín, Carlos A., Servitja i Duque, Joan-Marc   +6 more
core   +2 more sources

Peritoneal tissue-resident macrophages are metabolically poised to engage microbes using tissue-niche fuels [PDF]

, 2017
The importance of metabolism in macrophage function has been reported, but the in vivo relevance of the in vitro observations is still unclear. Here we show that macrophage metabolites are defined in a specific tissue context, and these metabolites are ...
Davies, Luke, Kuhns, Douglas B., McVicar, Daniel W., Palmieri, Erika M., Rice, Christopher M., Taylor, Philip   +5 more
core   +3 more sources

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