Cargando…

A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72‐ALS

BACKGROUND: The ataxin‐2 (ATXN2) gene contains a cytosine‐adenine‐guanine repeat sequence ranging from 13 to 31 repeats, but when surpassing certain thresholds causes neurodegeneration. Genetic alterations in ATXN2 other than pathological cytosine adenine guanine (CAG) repeats are unknown. METHODS/R...

Descripción completa

Detalles Bibliográficos
Autores principales:	Laffita‐Mesa, Jose Miguel, Nennesmo, Inger, Paucar, Martin, Svenningsson, Per
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2020
Materias:	Regular Issue Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7983901/ https://www.ncbi.nlm.nih.gov/pubmed/33058338 http://dx.doi.org/10.1002/mds.28334

Ejemplares similares

Are ATXN2 variants modifying our understanding about neural pathogenesis, phenotypes, and diagnostic?
por: Laffita-Mesa, Jose Miguel, et al.
Publicado: (2022)

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19
por: Paucar, Martin, et al.
Publicado: (2018)

Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population
por: Faruq, Mohammed, et al.
Publicado: (2015)

Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3
por: Maas, Roderick P.P.W.M., et al.
Publicado: (2022)

Spinocerebellar ataxia type 31 (SCA31)
por: Ishikawa, Kinya
Publicado: (2022)

On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy
por: van der Put, Johanna, et al.
Publicado: (2022)

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)
por: Borroni, Barbara, et al.
Publicado: (2016)

MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)
por: Depondt, Chantal, et al.
Publicado: (2016)

Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy
por: Paucar, Martin, et al.
Publicado: (2018)

Ataxin-2 gene: a powerful modulator of neurological disorders
por: Laffita-Mesa, Jose Miguel, et al.
Publicado: (2021)

Neuropsychological Features of Patients with Spinocerebellar Ataxia (SCA) Types 1, 2, 3, and 6
por: Klinke, Ina, et al.
Publicado: (2010)

Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)
por: Figueroa, Karla P., et al.
Publicado: (2011)

Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1
por: Coffin, Stephanie L., et al.
Publicado: (2023)

Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1
por: Coffin, Stephanie L., et al.
Publicado: (2023)

The cerebral metabolic topography of spinocerebellar ataxia type 3
por: Meles, Sanne K., et al.
Publicado: (2018)

Loss of the Spinocerebellar Ataxia type 3 disease protein ATXN3 alters transcription of multiple signal transduction pathways
por: Zeng, Li, et al.
Publicado: (2018)

The Truncated C-terminal Fragment of Mutant ATXN3 Disrupts Mitochondria Dynamics in Spinocerebellar Ataxia Type 3 Models
por: Hsu, Jung-Yu, et al.
Publicado: (2017)

Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study
por: Choubtum, Lulin, et al.
Publicado: (2015)

Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis
por: Yang, Su, et al.
Publicado: (2016)

Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA)
por: Prestori, Francesca, et al.
Publicado: (2019)

Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models
por: Moore, Lauren R., et al.
Publicado: (2017)

Autophagy Promoted the Degradation of Mutant ATXN3 in Neurally Differentiated Spinocerebellar Ataxia-3 Human Induced Pluripotent Stem Cells
por: Ou, Zhanhui, et al.
Publicado: (2016)

RNA Toxicity and Perturbation of rRNA Processing in Spinocerebellar Ataxia Type 2
por: Li, Pan P., et al.
Publicado: (2021)

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)
por: Bourque, Pierre R., et al.
Publicado: (2018)

Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA
por: Lin, Chih-Chun, et al.
Publicado: (2020)

Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31)
por: Ishikawa, Kinya, et al.
Publicado: (2019)

Insight Into Spinocerebellar Ataxia Type 31 (SCA31) From Drosophila Model
por: Ishiguro, Taro, et al.
Publicado: (2021)

miRNA-Mediated Knockdown of ATXN3 Alleviates Molecular Disease Hallmarks in a Mouse Model for Spinocerebellar Ataxia Type 3
por: Nobre, Rui Jorge, et al.
Publicado: (2022)

Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1
por: Jang, Ja-Hyun, et al.
Publicado: (2022)

Unique degeneration signatures in the cerebellar cortex for spinocerebellar ataxias 2, 3, and 7
por: Hernandez-Castillo, Carlos R., et al.
Publicado: (2018)

Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes
por: Aydin, Gülsah, et al.
Publicado: (2018)

Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10)
por: Almeida, Teresa, et al.
Publicado: (2009)

VEGF ameliorates the ataxic phenotype in spinocerebellar ataxia type 1 (SCA1) mice
por: Cvetanovic, Marija, et al.
Publicado: (2011)

Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA)
por: Velasco, Harvy, et al.
Publicado: (2018)

Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families
por: Atadzhanov, Masharip, et al.
Publicado: (2017)

Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report
por: Duggirala, Niharika, et al.
Publicado: (2023)

Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27
por: Paucar, M., et al.
Publicado: (2020)

Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity
por: Figueroa, Karla P., et al.
Publicado: (2009)

ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10
por: Morato Torres, C. Alejandra, et al.
Publicado: (2022)

Co‐occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccades
por: Wu, Chao, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_87e4cpugpo0tdrtbfh4ah1sr77