SCA1 ATXN1

Ontology Lookup Service (OLS)

Spinocerebellar Ataxia Type 1

Puneet,Opal, Tetsuo,Ashizawa

GeneReviews® · 1993-01-01

UpToDate

Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.

H Y,Zoghbi, M S,Pollack, L A,Lyons, R E,Ferrell, S P,Daiger, A L,Beaudet

Annals of neurology · 1988-06-01

Clinical features and natural history of spinocerebellar ataxia type 1.

H,Sasaki, T,Fukazawa, T,Yanagihara, T,Hamada, K,Shima, A,Matsumoto, K,Hashimoto, N,Ito, A,Wakisaka, K,Tashiro

Acta neurologica Scandinavica · 1996-01-01

The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.

Elena,Capacci, Silvia,Bagnoli, Giulia,Giacomucci, Costanza Maria,Rapillo, Alessandra,Govoni, Valentina,Bessi, Cristina,Polito, Irene,Giotti, Alice,Brogi, Elisabetta,Pelo, Sandro,Sorbi, Benedetta,Nacmias, Camilla,Ferrari

Cerebellum (London, England) · 2023-10-31

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.

Igor,Stevanovski, Sanjog R,Chintalaphani, Hasindu,Gamaarachchi, James M,Ferguson, Sandy S,Pineda, Carolin K,Scriba, Michel,Tchan, Victor,Fung, Karl,Ng, Andrea,Cortese, Henry,Houlden, Carol,Dobson-Stone, Lauren,Fitzpatrick, Glenda,Halliday, Gianina,Ravenscroft, Mark R,Davis, Nigel G,Laing, Avi,Fellner, Marina,Kennerson, Kishore R,Kumar, Ira W,Deveson

Science advances · 2022-03-04

Combined overexpression of ATXN1L and mutant ATXN1 knockdown by AAV rescue motor phenotypes and gene signatures in SCA1 mice.

Ellie M,Carrell, Megan S,Keiser, Ashley B,Robbins, Beverly L,Davidson

Molecular therapy. Methods & clinical development · 2022-04-12

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

H T,Orr, M Y,Chung, S,Banfi, T J,Kwiatkowski, A,Servadio, A L,Beaudet, A E,McCall, L A,Duvick, L P,Ranum, H Y,Zoghbi

Nature genetics · 1993-07-01

Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.

Fatemeh,Ghorbani, Eddy N,de Boer, Michiel R,Fokkens, Jelkje,de Boer-Bergsma, Corien C,Verschuuren-Bemelmans, Elles,Wierenga, Hamidreza,Kasaei, Daan,Noordermeer, Dineke S,Verbeek, Helga,Westers, Cleo C,van Diemen

International journal of molecular sciences · 2024-10-18

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.

Guillaume,Baille, Nicolas,Geoffre, Anna,Wissocq, Pauline,Planté-Bordeneuve, Eugénie,Mutez, Vincent,Huin

BMC neurology · 2024-09-17

CAG repeat-selective compounds reduce abundance of expanded CAG RNAs in patient cell and murine models of SCAs.

Hannah K,Shorrock, Asmer,Aliyeva, Jesus A,Frias, Victoria A,DeMeo, Claudia D,Lennon, Cristina C,DeMeo, Amy K,Mascorro, Sharon,Shaughnessy, Hormoz,Mazdiyasni, John D,Cleary, Kaalak,Reddy, Sweta,Vangaveti, Damian S,Shin, J Andrew,Berglund

bioRxiv : the preprint server for biology · 2024-08-17

Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor.

Xun,Zhou, Runcheng,He, Sheng,Zeng, Mingqiang,Li, Hongxu,Pan, Yuwen,Zhao, Zhenhua,Liu, Qian,Xu, Jifeng,Guo, Xinxiang,Yan, Jinchen,Li, Beisha,Tang, Qiying,Sun

Brain communications · 2024-06-29

CAG repeat mosaicism is gene specific in spinocerebellar ataxias.

Radhia,Kacher, François-Xavier,Lejeune, Isabelle,David, Susana,Boluda, Giulia,Coarelli, Sabrina,Leclere-Turbant, Anna,Heinzmann, Cecilia,Marelli, Perrine,Charles, Cyril,Goizet, Nisha,Kabir, Rania,Hilab, Ludmila,Jornea, Julie,Six, Marc,Dommergues, Anne-Laure,Fauret, Alexis,Brice, Sandrine,Humbert, Alexandra,Durr

American journal of human genetics · 2024-04-15

Repeat expansions in

Camilla,Novy, Øyvind L,Busk, Ole-Bjørn,Tysnes, Sigve S,Landa, Tori N,Aanjesen, Karl B,Alstadhaug, Tale L,Bjerknes, Ingrid K,Bjørnå, Geir,Bråthen, Elin,Dahl, Natasha,Demic, Maria,Fahlström, Heidi Ø,Flemmen, Erika,Hallerstig, Ineke,HogenEsch, Margitta T,Kampman, Grethe,Kleveland, Helene B,Kvernmo, Unn,Ljøstad, Angelina,Maniaol, Aase Hagen,Morsund, Ola,Nakken, Cathrine G,Olsen, Katrin,Schlüter, May-Sissel,Utvik, Ryaz,Yaseen, Øystein L,Holla, Trygve,Holmøy, Helle,Høyer

Brain communications · 2024-03-14

Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing.

Jihoon G,Yoon, Seungbok,Lee, Jaeso,Cho, Narae,Kim, Sheehyun,Kim, Man Jin,Kim, Soo Yeon,Kim, Jangsup,Moon, Jong-Hee,Chae

European journal of human genetics : EJHG · 2024-02-02

Intranuclear inclusions of polyQ-expanded ATXN1 sequester RNA molecules.

Ioannis,Gkekas, Aimilia-Christina,Vagiona, Nikolaos,Pechlivanis, Georgia,Kastrinaki, Katerina,Pliatsika, Sebastian,Iben, Konstantinos,Xanthopoulos, Fotis E,Psomopoulos, Miguel A,Andrade-Navarro, Spyros,Petrakis

Frontiers in molecular neuroscience · 2023-12-06

Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability.

Terence,Gall-Duncan, Jennifer,Luo, Carla-Marie,Jurkovic, Laura A,Fischer, Kyota,Fujita, Amit L,Deshmukh, Rachel J,Harding, Stephanie,Tran, Mustafa,Mehkary, Vanessa,Li, David E,Leib, Ran,Chen, Hikari,Tanaka, Amanda G,Mason, Dominique,Lévesque, Mahreen,Khan, Mortezaali,Razzaghi, Tanya,Prasolava, Stella,Lanni, Nozomu,Sato, Marie-Christine,Caron, Gagan B,Panigrahi, Peixiang,Wang, Rachel,Lau, Arturo López,Castel, Jean-Yves,Masson, Lynette,Tippett, Clinton,Turner, Maria,Spies, Albert R,La Spada, Eric I,Campos, Maurice A,Curtis, François-Michel,Boisvert, Richard L M,Faull, Beverly L,Davidson, Masayuki,Nakamori, Hitoshi,Okazawa, Marc S,Wold, Christopher E,Pearson

Cell · 2023-10-11