Výsledky vyhledávání - "Suran Nethisinghe"

Akademický článek

Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases

Autor: Daniela Scarabino, Liana Veneziano, Alessia Fiore, Suran Nethisinghe, Elide Mantuano, Hector Garcia-Moreno, Gianmarco Bellucci, Nita Solanky, Maria Morello, Ginevra Zanni, Rosa Maria Corbo, Paola Giunti

Publikováno v: Antioxidants, Vol 11, Iss 8, p 1436 (2022)

SCA1, SCA2, and SCA3 are the most common forms of SCAs among the polyglutamine disorders, which include Huntington’s Disease (HD). We investigated the relationship between leukocyte telomere length (LTL) and the phenotype of SCA1, SCA2, and SCA3, c

Externí odkaz: https://doaj.org/article/634eb281641e4a14b5d766d9359f650e

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Akademický článek

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Publikováno v: Frontiers in Cellular Neuroscience, Vol 12 (2018)

Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the TATA-box binding protein gene (TBP). The disease has a varied age at onset and clinical presentation. It is distinct

Externí odkaz: https://doaj.org/article/15eee59640234cc3a342ef919bb83ae9

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Akademický článek

PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption

Autor: Suran Nethisinghe, Maria Lucia Pigazzini, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Katarina Manso, David Moore, Jon Warner, Mary B. Davis, Paola Giunti

Publikováno v: Frontiers in Cellular Neuroscience, Vol 12 (2018)

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by an expansion of a polyglutamine tract within the ATXN1 gene. Normal alleles have been reported to range from 6 to 35 repeats, intermediate alleles from

Externí odkaz: https://doaj.org/article/a75bd019892b41b583329a8dee9d1f85

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Akademický článek

The role of interruptions in polyQ in the pathology of SCA1.

Autor: Rajesh P Menon, Suran Nethisinghe, Serena Faggiano, Tommaso Vannocci, Human Rezaei, Sally Pemble, Mary G Sweeney, Nicholas W Wood, Mary B Davis, Annalisa Pastore, Paola Giunti

Publikováno v: PLoS Genetics, Vol 9, Iss 7, p e1003648 (2013)

At least nine dominant neurodegenerative diseases are caused by expansion of CAG repeats in coding regions of specific genes that result in abnormal elongation of polyglutamine (polyQ) tracts in the corresponding gene products. When above a threshold

Externí odkaz: https://doaj.org/article/160e066247634585a377f084b98468ee

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A wearable motion capture suit and machine learning predict disease progression in Friedreich’s ataxia

Autor: Balasundaram Kadirvelu, Constantinos Gavriel, Sathiji Nageshwaran, Jackson Ping Kei Chan, Suran Nethisinghe, Stavros Athanasopoulos, Valeria Ricotti, Thomas Voit, Paola Giunti, Richard Festenstein, A. Aldo Faisal

Publikováno v: Nature Medicine. 29:86-94

Friedreichʼs ataxia (FA) is caused by a variant of the Frataxin (FXN) gene, leading to its downregulation and progressively impaired cardiac and neurological function. Current gold-standard clinical scales use simplistic behavioral assessments, whic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e562ed2af7eb9419594fbc66bea01eda
https://doi.org/10.1038/s41591-022-02159-6

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Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS

Autor: Paola Giunti, Suran Nethisinghe, Maheswaran Kesavan, W. Christian Wigley, Rosella Abeti

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 11722, p 11722 (2021)
International Journal of Molecular Sciences

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease caused by mutations in the SACS gene, encoding the 520 kDa modular protein sacsin, which comprises multiple functional sequence domains that suggest a r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2ed4a54132c9ba0343ef868c66e41a8
https://www.mdpi.com/1422-0067/22/21/11722

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Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization

Publikováno v: Cell Reports. 41:111580

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a childhood-onset cerebellar ataxia caused by mutations in SACS, which encodes the protein sacsin. Cellular ARSACS phenotypes include mitochondrial dysfunction, intermediate filame

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1efacf47940593ba8d8b563e29d0f497
https://doi.org/10.1016/j.celrep.2022.111580

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The ataxia protein sacsin is required for integrin trafficking and synaptic organization

Autor: Anthony J. Hickey, Suran Nethisinghe, Abubakar Hatimy, Lei Xing, Charlotte L. Hall, Laura Perna, Wen Yih Aw, Stefanie D. Howell, Laura E. Herring, Tammy M. Havener, Josh Beri, Lee M. Graves, Ginevra Chioccioli Altadonna, Konstantinos Thalassinos, Justin M. Wolter, Kathryn M. Hixson, J. Paul Chapple, Lisa E.L. Romano, Tatiana V. Novoselova

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in SACS, which manifest as a childhood-onset cerebellar ataxia. Cellular ARSACS phenotypes include mitochondrial dysfunction, intermediate filament (IF) disorga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0ddf55dbd3a1a1167cccb374e46fa9a4
https://doi.org/10.1101/2021.08.20.456807

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Interruptions of the

Autor: Suran, Nethisinghe, Maheswaran, Kesavan, Heather, Ging, Robyn, Labrum, James M, Polke, Saiful, Islam, Hector, Garcia-Moreno, Martina F, Callaghan, Francesca, Cavalcanti, Mark A, Pook, Paola, Giunti

Publikováno v: International Journal of Molecular Sciences

Friedreich’s ataxia (FRDA) is a comparatively rare autosomal recessive neurological disorder primarily caused by the homozygous expansion of a GAA trinucleotide repeat in intron 1 of the FXN gene. The repeat expansion causes gene silencing that res

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::12dfc9c409271eea969433f8e72a0bcc
https://pubmed.ncbi.nlm.nih.gov/34299126

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Interruptions of the FXN GAA repeat tract delay the age at onset of Friedreich's ataxia in a location dependent manner

Autor: Francesca Cavalcanti, Patrizia Spadafora, Antonio Qualtieri, Luigi Citrigno, Olivier Gallo, Gemma Di Palma, Suran Nethisinghe, Maheswaran Kesavan, Heather Ging, Robyn Labrum, James M. Polke, Saiful Islam, Hector Garcia-Moreno, Martina F. Callaghan, Mark A. Pook, Paola Giunti

Publikováno v: XXIV Congresso Nazionale Società Italiana di Genetica Umana SIGU, virtual edition, 17-19/11/2021
info:cnr-pdr/source/autori:Francesca Cavalcanti; Patrizia Spadafora; Antonio Qualtieri; Luigi Citrigno; Olivier Gallo; Gemma Di Palma; Suran Nethisinghe; Maheswaran Kesavan; Heather Ging; Robyn Labrum; James M. Polke; Saiful Islam; Hector Garcia-Moreno; Martina F. Callaghan; Mark A. Pook; Paola Giunti/congresso_nome:XXIV Congresso Nazionale Società Italiana di Genetica Umana SIGU/congresso_luogo:virtual edition/congresso_data:17-19%2F11%2F2021/anno:2021/pagina_da:/pagina_a:/intervallo_pagine

Background: Friedreich's ataxia is a rare autosomal recessive neurological disorder caused by the homozygous expansion of a GAA trinucleotide repeat in intron 1 of the FXN gene and frataxin protein deficiency. It has previously been observed that lar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::21bbef606f6ca5ace24cdc2ea4ec7995
https://publications.cnr.it/doc/461533

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