Literature DB >> 16130100

POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion.

Robert K Naviaux, Khue V Nguyen.   

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Year:  2005        PMID： 16130100     DOI： 10.1002/ana.20544

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  15 in total

1.  De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

Authors:  Sherine S L Chan; Robert K Naviaux; Alice A Basinger; Kari A Casas; William C Copeland
Journal:  Mitochondrion       Date:  2009-06-06       Impact factor: 4.160

Review 2.  DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

Authors:  Sherine S L Chan; William C Copeland
Journal:  Biochim Biophys Acta       Date:  2008-10-29

Review 3.  Mitochondrial disease in childhood: nuclear encoded.

Authors:  Amy C Goldstein; Poonam Bhatia; Jodie M Vento
Journal:  Neurotherapeutics       Date:  2013-04       Impact factor: 7.620

4.  Progressive ataxia with oculo-palatal tremor and optic atrophy.

Authors:  M M Papachatzaki; N Ali; Q Arshad; S Cader; I Peppas; C Everett; A M Bronstein; K Schmierer
Journal:  J Neurol       Date:  2013-10-08       Impact factor: 4.849

5.  Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene.

Authors:  Ewa Pronicka; Anna Weglewska-Jurkiewicz; Maciej Pronicki; Jolanta Sykut-Cegielska; Pawel Kowalski; Magdalena Pajdowska; Irena Jankowska; Katarzyna Kotulska; Piotr Kalicinski; Joanna Jakobkiewicz-Banecka; Grzegorz Wegrzyn
Journal:  Med Sci Monit       Date:  2011-04

Review 6.  Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.

Authors:  Liliya Euro; Gregory A Farnum; Eino Palin; Anu Suomalainen; Laurie S Kaguni
Journal:  Nucleic Acids Res       Date:  2011-08-08       Impact factor: 16.971

Review 7.  Autosomal recessive cerebellar ataxias.

Authors:  Francesc Palau; Carmen Espinós
Journal:  Orphanet J Rare Dis       Date:  2006-11-17       Impact factor: 4.123

8.  Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways.

Authors:  Richard Sherva; Alden Gross; Shubhabrata Mukherjee; Ryan Koesterer; Philippe Amouyel; Celine Bellenguez; Carole Dufouil; David A Bennett; Lori Chibnik; Carlos Cruchaga; Jorge Del-Aguila; Lindsay A Farrer; Richard Mayeux; Leanne Munsie; Ashley Winslow; Stephen Newhouse; Andrew J Saykin; John S K Kauwe; Paul K Crane; Robert C Green
Journal:  Alzheimers Dement       Date:  2020-06-23       Impact factor: 16.655

Review 9.  POLG-related disorders and their neurological manifestations.

Authors:  Shamima Rahman; William C Copeland
Journal:  Nat Rev Neurol       Date:  2019-01       Impact factor: 42.937

10.  Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.

Authors:  Frank Roels; Patrick Verloo; François Eyskens; Baudouin François; Sara Seneca; Boel De Paepe; Jean-Jacques Martin; Valerie Meersschaut; Marleen Praet; Emmanuel Scalais; Marc Espeel; Joél Smet; Gert Van Goethem; Rudy Van Coster
Journal:  BMC Clin Pathol       Date:  2009-06-05
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