Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9

Ranjan Batra; David A. Nelles; Elaine Pirie; Steven M. Blue; Ryan J. Marina; Harrison Wang; Isaac A. Chaim; James D. Thomas; Nigel Zhang; Vu Nguyen; Stefan Aigner; Sebastian Markmiller; Guangbin Xia; Kevin D. Corbett; Maurice S. Swanson; Gene W. Yeo

doi:10.1016/j.cell.2017.07.010

Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9

Cell ◽

10.1016/j.cell.2017.07.010 ◽

2017 ◽

Vol 170 (5) ◽

pp. 899-912.e10 ◽

Cited By ~ 119

Author(s):

Ranjan Batra ◽

David A. Nelles ◽

Elaine Pirie ◽

Steven M. Blue ◽

Ryan J. Marina ◽

...

Keyword(s):

Repeat Expansion ◽

Microsatellite Repeat ◽

Rna Targeting

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Faculty Opinions recommendation of Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.728639308.793540458 ◽

2017 ◽

Author(s):

Yousin Suh

Keyword(s):

Repeat Expansion ◽

Microsatellite Repeat ◽

Rna Targeting

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Faculty Opinions recommendation of Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.728639308.793536385 ◽

2017 ◽

Author(s):

Stephen T Warren

Keyword(s):

Repeat Expansion ◽

Microsatellite Repeat ◽

Rna Targeting

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Systematic microsatellite repeat expansion cloning and validation

Human Genetics ◽

10.1007/s00439-020-02165-z ◽

2020 ◽

Vol 139 (10) ◽

pp. 1233-1246

Author(s):

Kushal J. Rohilla ◽

Katy N. Ovington ◽

Adrian A. Pater ◽

Maria Barton ◽

Anthony J. Henke ◽

...

Keyword(s):

Repeat Expansion ◽

Microsatellite Repeat

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CANVAS is a common form of late-onset hereditary ataxia

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2020.04.51-52 ◽

2020 ◽

pp. 51-52

Author(s):

Е.П. Нужный ◽

Н.Ю. Абрамычева ◽

Е.Г. Воробьева ◽

Е.О. Иванова ◽

Ю.А. Шпилюкова ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Clinical Picture ◽

Autosomal Recessive ◽

Late Onset ◽

Repeat Expansion ◽

Hereditary Ataxia ◽

Recessive Ataxia ◽

Autosomal Recessive Ataxia

Синдром CANVAS (мозжечковая атаксия, невропатия и вестибулярная арефлексия) - аутосомно-рецессивная атаксия с поздним дебютом, обусловленная носительством биаллельной экспансии (AAGGG)n во 2-м интроне гена RFC1. До настоящего момента отсутствуют сведения о распространенности данного заболевания в российских семьях. Нами был проведен поиск биаллельной экспансии AAGGG-повторов у 35 российских пациентов с поздней мозжечковой атаксией. Верифицированы 5 пациентов (14,3%) с синдромом CANVAS и характерной клинической картиной. CANVAS (cerebellar ataxia, neuropathy and vestibular areflexia) is a late-onset autosomal recessive ataxia due to biallelic (AAGGG)n repeat expansion in the 2nd intron of the RFC1 gene. There is no information on the CANVAS prevalence in Russian families. We searched for biallelic expansion of AAGGG repeats in 35 Russian patients with late-onset cerebellar ataxia. Five patients (14.3%) with CANVAS syndrome and a characteristic clinical picture were verified.

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