Results 131 to 140 of about 1,111 (177)

mTORopathies in Epilepsy and Neurodevelopmental Disorders: The Future of Therapeutics and the Role of Gene Editing. [PDF]

Cells
Boff MO, Xavier FAC, Diz FM, Gonçalves JB, Ferreira LM, Zambeli J, Pazzin DB, Previato TTR, Erwig HS, Gonçalves JIB, Bruzzo FTK, Marinowic D, da Costa JC, Zanirati G.   +13 more
europepmc   +1 more source

Prenatal Exposure to Tobacco Smoke and Vaping Aerosols: Mechanisms Disrupting White-Matter Formation. [PDF]

Toxics
Beltran-Castillo S, Espinoza JP, Grambs M.   +2 more
europepmc   +1 more source

Loss of oligodendrocyte transcription factor 2 protein expression in metabolically stressed oligodendrocytes. [PDF]

Acta Neuropathol
Kaddatz H, Wenzel L, Pril E, Meien S, Harz V, Burkert L, Behrangi N, Zimmermann A, Frintrop L, Amor S, Kipp M, Heinig L.   +11 more
europepmc   +1 more source

Micro-scale control of oligodendrocyte morphology and myelination by the intellectual disability-linked protein acyltransferase ZDHHC9. [PDF]

Elife
Jeong HK, Gonzalez-Fernandez E, Crawley I, Coakley JM, Hwang J, Martin DDO, Bamji SX, Kim JI, Kang SH, Thomas GM.   +9 more
europepmc   +1 more source

A novel Aspartoacylase (ASPA) Gene Mutation in Canavan Disease

Fetal and Pediatric Pathology, 2012
Canavan disease is a severe autosomal recessive leukodystrophy characterized by macrocephaly, ataxia, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain. The human aspartoacylase (ASPA) gene, which catalyzes the deacetylation of N-acetyl-L-aspartate, is mutated in Canavan disease.
Asude Durmaz, Halûk Akin, Huseyin Önay   +2 more
exaly   +4 more sources

Modeling the Complete Catalytic Cycle of Aspartoacylase

The Journal of Physical Chemistry B, 2016
The complete catalytic cycle of aspartoacylase (ASPA), a zinc-dependent enzyme responsible for cleavage of N-acetyl-l-aspartate, is characterized by the methods of molecular modeling. The reaction energy profile connecting the enzyme-substrate (ES) and the enzyme-product (EP) complexes is constructed by the quantum mechanics/molecular mechanics (QM/MM)
Ekaterina D, Kots, Maria G, Khrenova, Sofya V, Lushchekina, Sergei D, Varfolomeev, Bella L, Grigorenko, Alexander V, Nemukhin   +5 more
openaire   +3 more sources

Expression of aspartoacylase (ASPA) and Canavan disease

Gene, 2012
Canavan disease (CD) is a neurodegenerative disorder usually presenting in the first six months of life. CD patients can be identified via elevated levels of N-acetyl-l-aspartate in the pattern of urinary organic acids assessed by gas chromatography-mass spectrometry.
Sommer, Anke, Saß, Jörn-Oliver
openaire   +5 more sources

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Purification and preliminary characterization of brain aspartoacylase

Archives of Biochemistry and Biophysics, 2003
Aspartoacylase catalyzes the deacetylation of N-acetylaspartic acid (NAA) in the brain to produce acetate and L-aspartate. An aspartoacylase deficiency, with concomitant accumulation of NAA, is responsible for Canavan disease, a lethal autosomal recessive disorder.
Christopher R Faehnle, Ronald E Viola
exaly   +5 more sources

Aspartoacylase gene knockout in the mouse: Impact on reproduction

Reproductive Toxicology, 2005
Canavan disease (CD) is an autosomal recessive disorder caused by aspartoacylase (ASPA) gene mutations resulting enzyme deficiency. The homozygous knockout mouse for CD showed symptoms similar observed in patients with CD. Canavan disease leads to early death.
Sankar Surendran, Reuben Matalon
exaly   +3 more sources