Results 21 to 30 of about 1,111 (177)

N-acetylaspartate promotes glycolytic-to-oxidative fiber-type switch and resistance to atrophic stimuli in myotubes [PDF]

Cell Death and Disease
N-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, Enrico Desideri, Leonardo Laureti, Federica Felice, Angela De Cristofaro, Silvia Scaricamazza, Giacomo Lazzarino, Maria Rosa Ciriolo, Fabio Ciccarone   +8 more
doaj   +2 more sources

Ablating the Transporter Sodium-Dependent Dicarboxylate Transporter 3 Prevents Leukodystrophy in Canavan Disease Mice. [PDF]

Ann Neurol, 2021
Canavan disease is caused by ASPA mutations that diminish brain aspartoacylase activity, and it is characterized by excessive brain storage of the aspartoacylase substrate, N-acetyl-l-aspartate (NAA), and by astroglial and intramyelinic vacuolation ...
Wang Y, Hull V, Sternbach S, Popovich B, Burns T, McDonough J, Guo F, Pleasure D.   +7 more
europepmc   +2 more sources

Central Dysmyelination in SSADH-Deficient Humans and Mice. [PDF]

Ann Clin Transl Neurol
ABSTRACT 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, Lee HHC, Yang E, Alves C, Bertoldi M, Fung C, Steele SV, Kule E, Jin Z, Rotenberg A, Roullet JB, Pearl PL.   +11 more
europepmc   +2 more sources

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, Stephen, Zano, Reka, Natarajan, Bryan, Yamamoto, Ronald E, Viola   +4 more
openaire   +2 more sources

Acetate Revisited: A Key Biomolecule at the Nexus of Metabolism, Epigenetics, and Oncogenesis – Part 2: Acetate and ACSS2 in Health and Disease

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, Narayanan Puthillathu, Ranjini Vengilote, Diane M. Jaworski, Aryan M. Namboodiri   +4 more
doaj   +1 more source

Acetate Revisited: A Key Biomolecule at the Nexus of Metabolism, Epigenetics and Oncogenesis—Part 1: Acetyl-CoA, Acetogenesis and Acyl-CoA Short-Chain Synthetases

Frontiers in Physiology, 2020
Acetate is a major end product of bacterial fermentation of fiber in the gut. Acetate, whether derived from the diet or from fermentation in the colon, has been implicated in a range of health benefits.
John R. Moffett, Narayanan Puthillathu, Ranjini Vengilote, Diane M. Jaworski, Aryan M. Namboodiri   +4 more
doaj   +1 more source

Mutational analysis of aspartoacylase: Implications for Canavan Disease [PDF]

Brain Research, 2007
Mutations that result in near undetectable activity of aspartoacylase, which catalyzes the deacetylation of N-acetyl-l-aspartate, correlate with Canavan Disease, a neurodegenerative disorder usually fatal during childhood. The underlying biochemical mechanisms of how these mutations ablate activity are poorly understood.
Jeremy R, Hershfield, Nagarajan, Pattabiraman, Chikkathur N, Madhavarao, M A Aryan, Namboodiri   +3 more
openaire   +2 more sources

Combined transcriptome and proteome analyses reveal differences in the longissimus dorsi muscle between Kazakh cattle and Xinjiang brown cattle [PDF]

Animal Bioscience, 2021
Objective With the rapid development of proteomics sequencing and RNA sequencing technology, multi-omics analysis has become a current research hotspot.
XiangMin Yan, Jia Wang, Hongbo Li, Liang Gao, Juan Geng, Zhen Ma, Jianming Liu, Jinshan Zhang, Penggui Xie, Lei Chen   +9 more
doaj   +1 more source

Canavan Disease: Clinical and laboratory profile from Southern part of India

Annals of Indian Academy of Neurology, 2021
Background: Canavan disease (CD) is an autosomal recessively inherited leukodystrophy. It affects one in 6,400 to 13,500 people in the Jewish population.
Vykuntaraju K Gowda, Narmadham K Bharathi, Jamunashree Bettaiah, Maya Bhat, Sanjay K Shivappa   +4 more
doaj   +1 more source

Brain Nat8l Knockdown Suppresses Spongiform Leukodystrophy in an Aspartoacylase-Deficient Canavan Disease Mouse Model [PDF]

, 2018
Canavan disease, a leukodystrophy caused by loss-of-function ASPA mutations, is characterized by brain dysmyelination, vacuolation, and astrogliosis ("spongiform leukodystrophy").
Olga Chechneva, Bokyung Kim, Guo, Fuzheng, Jennifer A. McDonough, Pleasure, David, Wang, Yan, Peter Bannerman, Zhu, Xiaoqing, Naveen K. Singhal, Fuzheng Guo, Bannerman, Peter, Chechneva, Olga, Xiaoqing Zhu, Burns, Travis, Kim, Bokyung, McDonough, Jennifer A, Yan Wang, David Pleasure, Travis Burns, Singhal, Naveen K   +19 more
core   +1 more source