Disease Variants of the Human Mitochondrial DNA Helicase Encoded byC10orf2Differentially Alter Protein Stability, Nucleotide Hydrolysis, and Helicase Activity

Mitochondrial Energetics and Therapeutics

(2010) Douglas C. Wallace et al.   Annual Review of Pathology-Mechanisms of Disease

Dynamic Effects of Cofactors and DNA on the Oligomeric State of Human Mitochondrial DNA Helicase

(2010) Tawn D. Ziebarth et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

(2010) C. Fratter et al.   NEUROLOGY

Residues in the central  -hairpin of the DNA helicase of bacteriophage T7 are important in DNA unwinding

(2010) A. K. Satapathy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease

(2009) Johan L.K. Van Hove et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recessive twinkle mutations cause severe epileptic encephalopathy

(2009) T. Lonnqvist et al.   BRAIN

Mouse models of mitochondrial DNA defects and their relevance for human disease

(2009) Henna Tyynismaa et al.   EMBO REPORTS

Structure–function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia

(2008) Teresa Holmlund et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

(2008) A. H. Hakonen et al.   HUMAN MOLECULAR GENETICS

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

(2008) Steffi Goffart et al.   HUMAN MOLECULAR GENETICS

Physiological and Biochemical Defects in Carboxyl-terminal Mutants of Mitochondrial DNA Helicase

(2008) Yuichi Matsushima et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structure–Function Defects of the TWINKLE Linker Region in Progressive External Ophthalmoplegia

(2008) Jenny A. Korhonen et al.   JOURNAL OF MOLECULAR BIOLOGY

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

(2008) R. Virgilio et al.   JOURNAL OF NEUROLOGY

Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

(2008) Wim Vandenberghe et al.   MOVEMENT DISORDERS

Communication between subunits critical to DNA binding by hexameric helicase of bacteriophage T7

(2008) Seung-Joo Lee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Inherited Mitochondrial Diseases of DNA Replication

(2007) William C. Copeland   Annual Review of Medicine