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Literature DB >> 25998497

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans.

Giorgia Mandrile^1,2, Eleonora Di Gregorio^3,4, Himanshu Goel⁵, Daniela Giachino^1,2, Stefania De Mercanti^2,6, Marco Iudicello⁶, Marco Rolando⁷, Sabrina Losa⁷, Mario De Marchi^1,2, Alfredo Brusco^8,9.

Abstract

Entities: Gene Species

Keywords: ATXNOS8; Ataxia; Genomic deletion; KLHL1; SCA8

Mesh：

Substances：

Year: 2016 PMID： 25998497 DOI： 10.1007/s12311-015-0679-3

Source DB: PubMed Journal: Cerebellum ISSN： 1473-4222 Impact factor: 3.847

× No keyword cloud information.

13 in total

1. SCA8 repeat expansions in ataxia: a controversial association.

Authors: M J Sobrido; J A Cholfin; S Perlman; S M Pulst; D H Geschwind
Journal: Neurology Date: 2001-10-09 Impact factor: 9.910

2. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

Authors: Melinda L Moseley; Tao Zu; Yoshio Ikeda; Wangcai Gao; Anne K Mosemiller; Randy S Daughters; Gang Chen; Marcy R Weatherspoon; H Brent Clark; Timothy J Ebner; John W Day; Laura P W Ranum
Journal: Nat Genet Date: 2006-06-25 Impact factor: 38.330

3. Asymptomatic CTG expansion at the SCA8 locus is associated with cerebellar atrophy on MRI.

Authors: Y Ikeda; M Shizuka-Ikeda; M Watanabe; M Schmitt; K Okamoto; M Shoji
Journal: J Neurol Sci Date: 2000-12-15 Impact factor: 3.181

4. SCA8 in the Spanish population including one homozygous patient.

Authors: B Tazón; C Badenas; L Jiménez; E Muñoz; M Milà
Journal: Clin Genet Date: 2002-11 Impact factor: 4.438

5. Spinocerebellar ataxia type 8: clinical features in a large family.

Authors: J W Day; L J Schut; M L Moseley; A C Durand; L P Ranum
Journal: Neurology Date: 2000-09-12 Impact factor: 9.910

6. The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1).

Authors: J P Nemes; K A Benzow; M L Moseley; L P Ranum; M D Koob
Journal: Hum Mol Genet Date: 2000-06-12 Impact factor: 6.150

7. Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits.

Authors: Yungui He; Tao Zu; Kellie A Benzow; Harry T Orr; H Brent Clark; Michael D Koob
Journal: J Neurosci Date: 2006-09-27 Impact factor: 6.167

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans.

1. SCA8 repeat expansions in ataxia: a controversial association.

2. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

3. Asymptomatic CTG expansion at the SCA8 locus is associated with cerebellar atrophy on MRI.

4. SCA8 in the Spanish population including one homozygous patient.

5. Spinocerebellar ataxia type 8: clinical features in a large family.

6. The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1).

7. Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits.

8. Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy.

9. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Review 10. Repeat-associated non-ATG (RAN) translation in neurological disease.

Review 1. RNA toxicity in non-coding repeat expansion disorders.