Suran Nethisinghe
UCL Institute of Neurology
18 Papers
24 Citations
Suran Nethisinghe is an academic researcher from UCL Institute of Neurology. The author has contributed to research in topics: Trinucleotide repeat expansion & Spinocerebellar ataxia. The author has an hindex of 9, co-authored 17 publications. Previous affiliations of Suran Nethisinghe include Queen Mary University of London & University College London.
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Papers
The Role of Interruptions in polyQ in the Pathology of SCA1
Rajesh Menon,Suran Nethisinghe,Serena Faggiano,Tommaso Vannocci,Human Rezaei,S E Pemble,Mary G. Sweeney,Nicholas W. Wood,Mary B. Davis,Annalisa Pastore,Paola Giunti +10 more
TL;DR: This study complemented DNA sequence determination with cellular and biophysical models and observed for the first time that repeat instability can occur even in the presence of CAG interruptions, and clarified by in vitro studies the mechanism by which polyQ interruption slows down aggregation.
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A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay
Teisha Y. Bradshaw,Lisa E.L. Romano,Emma J. Duncan,Suran Nethisinghe,Rosella Abeti,Gregory J. Michael,Paola Giunti,Sascha Vermeer,J. Paul Chapple +8 more
TL;DR: Data suggest a model for ARSACS where neurons with reduced levels of sacsin are compromised in their ability to recruit or retain Drp1 at the mitochondrial membrane leading to a decline in mitochondrial health, potentially through impaired mitochondrial quality control.
PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption.
Suran Nethisinghe,Maria Lucia Pigazzini,S E Pemble,Mary G. Sweeney,Robyn Labrum,Katarina Manso,David Moore,Jon Warner,Mary B. Davis,Paola Giunti +9 more
TL;DR: It is shown that SCA1 intermediate alleles have a different behavior compared to the other polyglutamine disorders as they do not show reduced penetrance when uninterrupted, and the pathogenic mechanism inSCA1 is distinct from other cytosine-adenine-guanine (CAG) repeat disorders.
Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
Claudia Cagnoli,Alessandro Brussino,Cecilia Mancini,Marina Ferrone,Laura Orsi,Paola Salmin,Patrizia Pappi,Elisa Giorgio,Elisa Pozzi,Simona Cavalieri,Eleonora Di Gregorio,Marta Ferrero,Alessandro Filla,Giuseppe De Michele,Cinzia Gellera,Caterina Mariotti,Suran Nethisinghe,Paola Giunti,Giovanni Stevanin,Alfredo Brusco +19 more
TL;DR: The efficacy of a novel, rapid, and cost-effective method to identify and size pathogenic expansions in SCA1, 2, 3, 6, and 7 and recognize large alleles or interruptions without a second-level test is shown.
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Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions
Pietro Fratta,Toby Collins,S E Pemble,Suran Nethisinghe,Anny Devoy,Paola Giunti,Mary G. Sweeney,Michael G. Hanna,Elizabeth M. C. Fisher +8 more
TL;DR: A sequencing study of the AR CAG repeat in a cohort of SBMA patients and control subjects in the United Kingdom found no repeat interruptions to be present, and differences between sequencing and traditional sizing methods are described.
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