Results 91 to 100 of about 1,111 (177)

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

, 2002
Canavan disease, an inherited leukodystrophy, is caused by mutations in the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish descent but has been diagnosed in many diverse ethnic groups. Two mutations comprise the majority
De Gaspari, R., R. De Gasperi, Raghavan, S., Ong, E., Zeng, B. J., Pastores, G. M., E. Ong, L. A. Ribeiro, E. H. Kolodny, Leone, P., Kim, S. J., G. M. Pastores, S. J. Kim, B. J. Zeng, Ribeiro, L. A., S. Raghavan, Kolodny, E. H., P. Leone, Wang, Z. H., Z. H. Wang   +19 more
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rAAV-Mediated Gene Transfer For Study of Pathological Mechanisms and Therapeutic Intervention in Canavan's Disease: A Dissertation

, 2015
Canavan’s Disease is a fatal Central Nervous System disorder caused by genetic defects in the enzyme – aspartoacylase and currently has no effective treatment options.
Ahmed, Seemin Seher
core   +1 more source

N-acetylaspartate catabolism determines cytosolic acetyl-CoA levels and histone acetylation in brown adipocytes

, 2016
Histone acetylation depends on the abundance of nucleo-cytoplasmic acetyl-CoA. Here, we present a novel route for cytoplasmic acetyl-CoA production in brown adipocytes.
Birner-Gruenberger, R., Huber, K., Magnes, C., Graier, W., Pessentheiner, A., Kolb, D., Trausinger, G., Bogner-Strauss, &., Schittmayer, M., Drougard, A., Pelzmann, H., Pospisilik, J., Prokesch, A., Madreiter-Sokolowski, C.   +13 more
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Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease.

, 2000
With the ultimate goal of developing safe and effective in vivo gene therapy for the treatment of Canavan disease and other neurological disorders, we developed a non-viral lipid-entrapped, polycation-condensed delivery system (LPD) for central nervous ...
Freese, A, Wang, Z, Sorgi, F, Zeng, Z, Mee, E, Bilaniuk, L, Kaul, R, Matalon, R, McPhee, S W, During, M J, Janson, C G, Leone, P, Huang, L   +12 more
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Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation

, 2011
Unmasking a recessive allele on one chromosome by a deletion on the other is a disease causing mechanism often invoked but rarely proven. We report on an Italian female patient with Canavan disease (OMIM# 271900) due to a missense mutation of the ...
Carella M, Merla G, Palumbo O, Augello B, Cozzolino M, BRUNETTI PIERRI, NICOLA, Amorini AM, Lazzarino G, Tavazzi B   +8 more
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Canavan disease :An automosal recessive leukodistrophy identified at autopsy

, 2007
Canavan hastalığı, beyaz cevherin spongiform dejenerasyonu ile kendini gösteren nadir görülen otosomal çekinik (resesif) bir lökodistrofidir. 17. kromozomun kısa kolunda lokalize bir genin mutasyonunun neden olduğu aspartoasiiaz enzim eksikliğinin bu ...

core  

Canavan's spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature. [PDF]

J Ultrasound, 2023
Rossler L, Lemburg S, Weitkämper A, Thiels C, Hoffjan S, Nguyen HP, Lücke T, Heyer CM.   +7 more
europepmc   +1 more source

Glutamatergic Neurotransmission Disruption as a Pathomechanism of Brain Damage in Disorders of Amino Acid and Organic Acid Metabolism: Insights from Animal and Cellular Studies. [PDF]

Neurochem Res
Marcuzzo MB, Benati MPDV, Souza DO, Wajner M, Leipnitz G.   +4 more
europepmc   +1 more source

Discovery of <i>N</i>-Acetyltransferase 8-Like (NAT8L) inhibitors based on a <i>N</i>-Acylated (Piperidin-3-ylmethyl)-1,2,4-Oxadiazole Scaffold. [PDF]

ACS Med Chem Lett
Nayeen MJ, Thomas AG, Kundu B, Carlyle E, Hin N, Hin P, Pal A, Paule J, Rais R, Slusher BS, Tsukamoto T.   +10 more
europepmc   +1 more source

Deeper Than the Metabolite: A Novel Genetic Mutation in an Indian Child With Glutaric Aciduria Type 1. [PDF]

Cureus
Srivastava P, Biswal SS, Kumar R, Swaroop S, Tanti SK.   +4 more
europepmc   +1 more source