Cargando…

Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity

BACKGROUND: Expansion of a CAG repeat in the coding region of exon 1 in the ATXN2 gene located in human chromosome 12q24.1 causes the neurodegenerative disease spinocerebellar ataxia type 2 (SCA2). In contrast to other polyglutamine (polyQ) disorders, the SCA2 repeat is not highly polymorphic in cen...

Descripción completa

Detalles Bibliográficos
Autores principales:	Figueroa, Karla P., Farooqi, Sadaf, Harrup, Kristopher, Frank, Johnathan, O'Rahilly, Stephen, Pulst, Stefan M.
Formato:	Texto
Lenguaje:	English
Publicado:	Public Library of Science 2009
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2791421/ https://www.ncbi.nlm.nih.gov/pubmed/20016785 http://dx.doi.org/10.1371/journal.pone.0008280

Ejemplares similares

Genetic analysis of age at onset variation in spinocerebellar ataxia type 2
por: Figueroa, K.P., et al.
Publicado: (2017)

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2
por: Scoles, Daniel R., et al.
Publicado: (2017)

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)

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias
por: Gan, Shi-Rui, et al.
Publicado: (2017)

Human Obesity: A Heritable Neurobehavioral Disorder That Is Highly Sensitive to Environmental Conditions
por: O'Rahilly, Stephen, et al.
Publicado: (2008)

The complex structure of ATXN2 genetic variation
por: Pulst, Stefan M.
Publicado: (2018)

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)

Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation
por: Mitchell, Nester, et al.
Publicado: (2019)

A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72‐ALS
por: Laffita‐Mesa, Jose Miguel, et al.
Publicado: (2020)

Diagnosis of Spinocerebellar Ataxia in the West Indies
por: Yearwood, Ashley K., et al.
Publicado: (2018)

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)

Vascular Risk Factors and Clinical Progression in Spinocerebellar Ataxias
por: Lo, Raymond Y., et al.
Publicado: (2015)

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

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)

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

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

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)

Region‐specific preservation of Purkinje cell morphology and motor behavior in the ATXN1[82Q] mouse model of spinocerebellar ataxia 1
por: White, Joshua J., 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)

Clinical analysis of adult-onset spinocerebellar ataxias in Thailand
por: Boonkongchuen, Pairoj, et al.
Publicado: (2014)

A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2
por: Meera, Pratap, et al.
Publicado: (2017)

Disease progression of spinocerebellar ataxia types 1, 2, 3 and 6 before and after ataxia onset
por: Jacobi, Heike, et al.
Publicado: (2023)

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
por: Tezenas du Montcel, Sophie, et al.
Publicado: (2014)

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

Spinocerebellar Ataxia 12 Patients have better Quality of Life than Spinocerebellar Ataxia 1 and 2
por: Dabla, Surekha, et al.
Publicado: (2022)

An understanding of spinocerebellar ataxia
por: Ramachandra, N.B., et al.
Publicado: (2015)

Parkinsonism in Spinocerebellar Ataxia
por: Park, Hyeyoung, et al.
Publicado: (2015)

Spinocerebellar ataxia: an update
por: Sullivan, Roisin, et al.
Publicado: (2018)

Ayurvedic approach in the management of spinocerebellar ataxia-2
por: Singh, Sarvesh Kumar, et al.
Publicado: (2016)

The Multiple Faces of Spinocerebellar Ataxia type 2
por: Antenora, Antonella, et al.
Publicado: (2017)

Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study
por: Ashizawa, Tetsuo, et al.
Publicado: (2013)

The Hormonal Control of Food Intake
por: Coll, Anthony P., et al.
Publicado: (2007)

Cell biology of spinocerebellar ataxia
por: Orr, Harry T.
Publicado: (2012)

Cognitive dysfunction in spinocerebellar ataxias
por: Teive, Helio Afonso Ghizoni, et al.
Publicado: (2009)

Neuroradiological Findings in the Spinocerebellar Ataxias
por: Meira, Alex Tiburtino, et al.
Publicado: (2019)

Late-onset oro-facial dyskinesia in Spinocerebellar Ataxia type 2: a case report
por: Giardina, Floriana, et al.
Publicado: (2020)

Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia
por: Mohamed Ibrahim, Norlinah, et al.
Publicado: (2020)

Autonomic function testing in spinocerebellar ataxia type 2
por: Indelicato, Elisabetta, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_hvjt7gdpq3ucok3o97kbrcsndb