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10.1016/j.ajhg.2016.07.018 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2016.07.018 C5065653!5065653 !27616477     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=27616477 &cmd=llinks): Failed to open stream: HTTP request failed! 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NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood |pdf=|usr=}}{{27616477 }} gab.com Text NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=27616477 #FOAvip To safeguard the cell from the accumulation of potentially harmful metabolic intermediates, specific repair mechanisms have evolved. APOA1BP, now renamed NAXE, encodes an epimerase essential in the cellular metabolite repair for NADHX and NADPHX. The enzyme catalyzes the epimerization of NAD(P)HX, thereby avoiding the accumulation of toxic metabolites. The clinical importance of the NAD(P)HX repair system has been unknown. Exome sequencing revealed pathogenic biallelic mutations in NAXE in children from four families with (sub-) acute-onset ataxia, cerebellar edema, spinal myelopathy, and skin lesions. Lactate was elevated in cerebrospinal fluid of all affected individuals. Disease onset was during the second year of life and clinical signs as well as episodes of deterioration were triggered by febrile infections. Disease course was rapidly progressive, leading to coma, global brain atrophy, and finally to death in all affected individuals. NAXE levels were undetectable in fibroblasts from affected individuals of two families. In these fibroblasts we measured highly elevated concentrations of the toxic metabolite cyclic-NADHX, confirming a deficiency of the mitochondrial NAD(P)HX repair system. Finally, NAD or nicotinic acid (vitamin B3) supplementation might have therapeutic implications for this fatal disorder. Twit Text FOAVip NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=27616477 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27616477 #FOAvip English Wikipedia <ref>{{Cite pmid|27616477 }}</ref> NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood #MMPMID27616477 Kremer LS ; Danhauser K ; Herebian D ; Petkovic Ramad?a D ; Piekutowska-Abramczuk D ; Seibt A ; Müller-Felber W ; Haack TB ; P?oski R ; Lohmeier K ; Schneider D ; Klee D ; Rokicki D ; Mayatepek E ; Strom TM ; Meitinger T ; Klopstock T ; Pronicka E ; Mayr JA ; Baric I ; Distelmaier F ; Prokisch H Am J Hum Genet 2016[Oct]; 99 (4 ): 894-902 PMID27616477 show ga To safeguard the cell from the accumulation of potentially harmful metabolic intermediates, specific repair mechanisms have evolved. APOA1BP, now renamed NAXE, encodes an epimerase essential in the cellular metabolite repair for NADHX and NADPHX. The enzyme catalyzes the epimerization of NAD(P)HX, thereby avoiding the accumulation of toxic metabolites. The clinical importance of the NAD(P)HX repair system has been unknown. Exome sequencing revealed pathogenic biallelic mutations in NAXE in children from four families with (sub-) acute-onset ataxia, cerebellar edema, spinal myelopathy, and skin lesions. Lactate was elevated in cerebrospinal fluid of all affected individuals. Disease onset was during the second year of life and clinical signs as well as episodes of deterioration were triggered by febrile infections. Disease course was rapidly progressive, leading to coma, global brain atrophy, and finally to death in all affected individuals. NAXE levels were undetectable in fibroblasts from affected individuals of two families. In these fibroblasts we measured highly elevated concentrations of the toxic metabolite cyclic-NADHX, confirming a deficiency of the mitochondrial NAD(P)HX repair system. Finally, NAD or nicotinic acid (vitamin B3) supplementation might have therapeutic implications for this fatal disorder. |*Mutation [MESH] |Carrier Proteins/*genetics/metabolism [MESH] |Cell Line [MESH] |Child, Preschool [MESH] |Fatal Outcome [MESH] |Female [MESH] |Fibroblasts [MESH] |Humans [MESH] |Infant [MESH] |Male [MESH] |Metabolic Diseases/*genetics/metabolism/pathology [MESH] |NAD/*analogs & derivatives/metabolism [MESH] |Nervous System Diseases/*genetics/metabolism/pathology [MESH] |Neuroimaging [MESH] |Racemases and Epimerases/*genetics [MESH]NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a(epmc).pdf DeepDyve Pubget Overpricing