K
Kaisu Nikali
Researcher at University of Helsinki
Publications - 11
Citations - 1472
Kaisu Nikali is an academic researcher from University of Helsinki. The author has contributed to research in topics: Infantile onset spinocerebellar ataxia & Gene. The author has an hindex of 8, co-authored 11 publications receiving 1411 citations.
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Journal ArticleDOI
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
Johannes N. Spelbrink,Fang Yuan Li,Valeria Tiranti,Kaisu Nikali,Qiu Ping Yuan,Muhammed Tariq,Sjoerd Wanrooij,Nuria Garrido,Giacomo P. Comi,Lucia Morandi,Lucio Santoro,Antonio Toscano,Gian Maria Fabrizi,Hannu Somer,R Croxen,David Beeson,Joanna Poulton,Anu Suomalainen,Howard T. Jacobs,Massimo Zeviani,Catharina Larsson +20 more
TL;DR: A novel mitochondrial protein, Twinkle, with structural similarity to phage T7 gene 4 primase/helicase and other hexameric ring helicases is reported, inferred to be critical for lifetime maintenance of human mtDNA integrity.
Journal ArticleDOI
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
Kaisu Nikali,Anu Suomalainen,Juha Saharinen,Mikko Kuokkanen,Johannes N. Spelbrink,Tuula Lönnqvist,Leena Peltonen +6 more
TL;DR: The severe neurological phenotype observed in IOSCA, a result of only a single amino acid substitution in Twinkle and Twinky, suggests that these proteins play a crucial role in the maintenance and/or function of specific affected neuronal subpopulations.
Journal ArticleDOI
Erratum: Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (Nature Genetics (2001) 28 (223-231))
Johannes N. Spelbrink,Fang Yuan Li,Valeria Tiranti,Kaisu Nikali,Q. P. Yuan,Muhammad Tariq,Sjoerd Wanrooij,Nuria Garrido,Giacomo P. Comi,Lucia Morandi,Lucio Santoro,A. Toscano,G. M. Fabrizi,Hannu Somer,R Croxen,David Beeson,Joanna Poulton,Anu Suomalainen,Howy Jacobs,Massimo Zeviani,Catharina Larsson +20 more
TL;DR: The affiliation for G.N. Larsson Nature Genet is unclear, but the affiliation for C.T. Zeviani & C.J. Jacobs is confirmed.
Journal Article
Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.
Kaisu Nikali,Anu Suomalainen,Joseph D. Terwilliger,Tuula Koskinen,Jean Weissenbach,Leena Peltonen +5 more
TL;DR: A primary screening of the genome was performed using samples from just four affected individuals in two consanguineous pedigrees, and strong linkage disequilibrium observed between IOSCA and the linked markers was utilized to define accurately the critical chromosomal region.
Journal ArticleDOI
Toward Cloning of a Novel Ataxia Gene: Refined Assignment and Physical Map of the IOSCA Locus (SCA8) on 10q24
TL;DR: Haplotype analysis combined with genealogical data provided evidence that all the IOSCA cases in Finland originate from a single 30- to 40-generation-old founder mutation, suggesting the isolation of a novel ataxia gene.