POLG1 polyglutamine tract variants associated with Parkinson's disease
…, S Scholz, C Paisan-Ruiz, A Suomalainen… - Neuroscience …, 2010 - Elsevier
A possible role of allelic variation of the mitochondrial DNA polymerase gamma (POLG1) gene
in Parkinson's disease (PD) has been suggested. First, POLG1 missense mutations have …
in Parkinson's disease (PD) has been suggested. First, POLG1 missense mutations have …
[HTML][HTML] Mitochondria: in sickness and in health
J Nunnari, A Suomalainen - Cell, 2012 - cell.com
Mitochondria perform diverse yet interconnected functions, producing ATP and many
biosynthetic intermediates while also contributing to cellular stress responses such as autophagy …
biosynthetic intermediates while also contributing to cellular stress responses such as autophagy …
Mitochondrial diseases
…, Y Koga, R McFarland, A Suomalainen… - Nature reviews Disease …, 2016 - nature.com
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
…, R Croxen, D Beeson, J Poulton, A Suomalainen… - Nature …, 2001 - nature.com
The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and
organization remain largely unknown. We report here a novel mitochondrial protein, Twinkle, …
organization remain largely unknown. We report here a novel mitochondrial protein, Twinkle, …
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of …
…, AM Schaefer, PG Griffiths, K Ahlqvist, A Suomalainen… - Brain, 2008 - academic.oup.com
Mutations in nuclear genes involved in mitochondrial DNA (mtDNA) maintenance cause a
wide range of clinical phenotypes associated with the secondary accumulation of multiple …
wide range of clinical phenotypes associated with the secondary accumulation of multiple …
Role of adenine nucleotide translocator 1 in mtDNA maintenance
…, GP Comi, S Keränen, L Peltonen, A Suomalainen - Science, 2000 - science.org
Autosomal dominant progressive external ophthalmoplegia is a rare human disease that
shows a Mendelian inheritance pattern, but is characterized by large-scale mitochondrial DNA (…
shows a Mendelian inheritance pattern, but is characterized by large-scale mitochondrial DNA (…
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
…, A Paetau, A Suomalainen - Proceedings of the …, 2005 - National Acad Sciences
Defects of mitochondrial DNA (mtDNA) maintenance have recently been associated with
inherited neurodegenerative and muscle diseases and the aging process. Twinkle is a nuclear-…
inherited neurodegenerative and muscle diseases and the aging process. Twinkle is a nuclear-…
Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study
…, L Peltonen, K Majamaa, H Somer, A Suomalainen - The Lancet, 2004 - thelancet.com
Background Mutations in the gene encoding mitochondrial DNA polymerase γ (POLG), the
enzyme that synthesises mitochondrial DNA (mtDNA), have been associated with a …
enzyme that synthesises mitochondrial DNA (mtDNA), have been associated with a …
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
A Suomalainen, JM Elo, KH Pietiläinen… - The Lancet …, 2011 - thelancet.com
Background Muscle biopsy is the gold standard for diagnosis of mitochondrial disorders
because of the lack of sensitive biomarkers in serum. Fibroblast growth factor 21 (FGF-21) is a …
because of the lack of sensitive biomarkers in serum. Fibroblast growth factor 21 (FGF-21) is a …
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
…, D Turnbull, M Hanna, D Fialho, A Suomalainen… - Brain, 2006 - academic.oup.com
Mutations in the gene coding for the catalytic subunit of the mitochondrial DNA (mtDNA)
polymerase γ (POLG1) have recently been described in patients with diverse clinical …
polymerase γ (POLG1) have recently been described in patients with diverse clinical …