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POLG gene

Known as: POLG-ALPHA, POLG, POLG1 
National Institutes of Health

Related topics

Related topics

2 relations
POLG protein, humanPOLG2 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2010
Review
2010
The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
Review
2010
Review
2010
Polymerase Gamma 1 Mutations: Clinical Correlations
Background:Mitochondrial disorders result from primary defects in the mitochondrial DNA (mtDNA) or from defects in nuclear genes… 
Highly Cited
2008
Highly Cited
2008
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations
2008
2008
Juvenile Alpers disease.
BACKGROUND Alpers disease is commonly associated with polymerase gamma deficiency and usually affects infants or young children… 
Highly Cited
2006
Highly Cited
2006
POLG1 in idiopathic Parkinson disease
We studied POLG1 in 140 UK patients with idiopathic Parkinson disease (PD) and 279 Italian patients with PD and compared them to… 
2006
2006
A new POLG1 mutation with peo and severe axonal and demyelinating sensory–motor neuropathy
BackgroundProgressive external ophthalmoplegia (PEO) is a mitochondrial disorder associated with defective enzymatic activities… 
2006
2006
SANDO: Two novel mutations in POLG1 gene
2006
2006
The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase γ gene is not associated with oligozoospermia
The POLG1 nuclear gene, encoding for the catalytic subunit of the mitochondrial polymerase γ, has been reported to play a role in… 
2005
2005
Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.
Highly Cited
2001
Highly Cited
2001
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family
Autosomal dominant progressive external ophthalmoplegia (adPEO) is caused by mutations in at least three different genes: ANT1… 
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