Neural Regen Res
Role of the metabolism of branched-chain amino acids in the development of Alzheimer's disease and other metabolic disorders.
Polis B, Samson AO
Alzheimer's disease is an incurable chronic neurodegenerative disorder and the leading cause of dementia, imposing a growing economic burden upon soci ...
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Source: PubMed
JCI Insight 2020 Jan 28
Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.
Burrage LC, Madan S, Li X, Ali S, Mohammad MA, Stroup BM, Jiang MM, Cela R, Bertin T, Dai J, Guffey D, Finegold M, Nagamani S, Minard CG, Marini J, Masand P, Schady D, Shneider BL, Leung DH, Bali D, Lee B
Liver disease in urea cycle disorders (UCDs) ranges from hepatomegaly and chronic hepatocellular injury to cirrhosis and end-stage liver disease. Howe ...
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Source: PubMed
Hum. Mol. Genet. 2020 Jan 27
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism.
Maresca A, Del Dotto V, Capristo M, Scimonelli E, Tagliavini F, Morandi L, Tropeano CV, Caporali L, Mohamed S, Roberti M, Scandiffio L, Zaffagnini M, Rossi J, Cappelletti M, Musiani F, Contin M, Riva R, Liguori R, Pizza F, La Morgia C, Antelmi E, Polosa PL, Mignot E, Zanna C, Plazzi G, Carelli V
ADCA-DN and HSN-IE are rare neurodegenerative syndromes caused by dominant mutations in the replication foci targeting sequence (RFTS) of the DNA meth ...
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Source: PubMed
J. Membr. Biol. 2020 Jan 22
High-Resolution Respirometry in Assessment of Mitochondrial Function in Neuroblastoma SH-SY5Y Intact Cells.
Evinova A, Cizmarova B, Hatokova Z, Racay P
Mitochondria are organelles with significant cellular functions, especially cellular bioenergetics and apoptosis. They are structural and functional e ...
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Source: PubMed
Mol. Genet. Metab. 2020 Jan 10
Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency.
Anderson A, Gropman A, Le Mons C, Stratakis C, Gandjbakhche A
Hyperammonia due to ornithine transcarbamylase deficiency (OTCD) can cause a range of deficiencies in domains of executive function and working memory ...
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Source: PubMed
