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POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion
Medicine guidelines (http://www.eanm.org). F-FDG PET data were normalized to total global counts, scaled proportionally, mapped into Talairach space, and compared with neurologically healthyExpand
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POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
Alpers' syndrome is a fatal neurogenetic disorder first described more than 70 years ago. It is an autosomal recessive, developmental mitochondrial DNA depletion disorder characterized by deficiencyExpand
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Molecular diagnosis of Alpers syndrome.
BACKGROUND/AIMS Alpers syndrome is a developmental mitochondrial DNA depletion syndrome leading to fatal brain and liver disease in children and young adults. Mutations in the gene for theExpand
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Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Establishing meaningful relationships between genetic variations and clinical disease is a fundamental goal for all human genetic disorders. However, these genotype-phenotype correlations remainExpand
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POLG mutations in Alpers syndrome
Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3)Expand
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Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.
Inherited mutation of the purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome (LNS) or Lesch-Nyhan variants (LNV). We report a case of twoExpand
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Poly-L-lysine dissolves fibrillar aggregation of the Alzheimer beta-amyloid peptide in vitro.
beta-Amyloid peptide (beta A) is a major fibrillar component of neuritic plaques in Alzheimer's disease (AD) brains and is related to the pathogenesis of the disease. In this study, using electronExpand
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The human β-amyloid precursor protein: biomolecular and epigenetic aspects
  • K. Nguyen
  • Biology, Medicine
  • Biomolecular concepts
  • 1 March 2015
Abstract Beta-amyloid precursor protein (APP) is a membrane-spanning protein with a large extracellular domain and a much smaller intracellular domain. APP plays a central role in Alzheimer’s diseaseExpand
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Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
Methylcrotonylglycinuria (MCG) is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). TheExpand
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Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease
The present work is the development of a simple and specific kinetic method based on RT-PCR technique coupled with direct sequencing for quantification of various amyloid precursor protein-mRNAExpand
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