Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease. [PDF]
PLoS ONE, 2011 Canavan Disease (CD) is a recessive leukodystrophy caused by loss of function mutations in the gene encoding aspartoacylase (ASPA), an oligodendrocyte-enriched enzyme that hydrolyses N-acetylaspartate (NAA) to acetate and aspartate.
Nadine Mersmann +9 more
doaj +6 more sources
Mapping the degradation pathway of a disease-linked aspartoacylase variant. [PDF]
PLoS Genetics, 2021 Canavan disease is a severe progressive neurodegenerative disorder that is characterized by swelling and spongy degeneration of brain white matter.
Sarah K Gersing +9 more
doaj +5 more sources
Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease [PDF]
Cell & BioscienceCanavan disease is an autosomal recessive and lethal neurological disorder, characterized by the spongy degeneration of the white matter in the brain. The disease is caused by a deficiency of the cytosolic aspartoacylase (ASPA) enzyme, which catalyzes ...
Martin Grønbæk-Thygesen +1 more
doaj +2 more sources
N-acetylaspartate promotes glycolytic-to-oxidative fiber-type switch and resistance to atrophic stimuli in myotubes [PDF]
Cell Death and DiseaseN-acetylaspartate (NAA) is a neuronal metabolite that can be extruded in extracellular fluids and whose blood concentration increases in several neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Serena Castelli +8 more
doaj +2 more sources
A Novel Mutation in Aspartoacylase Gene; Canavan Disease [PDF]
Iranian journal of child neurology, 2015 How to Cite This Article: Ashrafi MR, Tavasoli AR, Katibeh P, Aryani O, Vafaee-Shahi M. A Novel Mutation In Aspartoacylase Gene; Canavan Disease. Iran J Child Neurol. Autumn 2015; 9(4): 54-57.AbstractObjectiveCanavan disease (CD) is a type of vacuolating
ARYANI, Omid +4 more
core +4 more sources
Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants [PDF]
Nature CommunicationsUnstable proteins are prone to form non-native interactions with other proteins and thereby may become toxic. To mitigate this, destabilized proteins are targeted by the protein quality control network. Here we present systematic studies of the cytosolic
Martin Grønbæk-Thygesen +12 more
doaj +2 more sources
Central Dysmyelination in SSADH-Deficient Humans and Mice. [PDF]
Ann Clin Transl NeurolABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Tokatly Latzer I +11 more
europepmc +2 more sources
Extracellular N-Acetylaspartate in Human Traumatic Brain Injury. [PDF]
, 2015 N-acetylaspartate (NAA) is an amino acid derivative primarily located in the neurons of the adult brain. The function of NAA is incompletely understood.
Carpenter, Keri LH +6 more
core +7 more sources
Frontiers in Physiology, 2020 Acetate, the shortest chain fatty acid, has been implicated in providing health benefits whether it is derived from the diet or is generated from microbial fermentation of fiber in the gut.
John R. Moffett +4 more
doaj +1 more source
Enhanced brain distribution of modified aspartoacylase [PDF]
Molecular Genetics and Metabolism, 2014 Canavan disease is a fatal neurological disorder caused by defects in the gene that produces the enzyme aspartoacylase. Enzyme replacement therapy can potentially be used to overcome these defects if a stable enzyme form that can gain access to the appropriate neural cells can be produced.
Nitesh K, Poddar +4 more
openaire +2 more sources