Genomics

Dataset Information

0

Homo sapiens


ABSTRACT: Vulnerability of Purkinje cells induced from spinocerebellar ataxia type 6 patient-derived iPS cells [2]

ORGANISM(S): Homo sapiens  

PROVIDER: PRJNA338241 | ENA |

REPOSITORIES: ENA

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Publications

Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs.

Ishida Yoshihito Y   Kawakami Hideshi H   Kitajima Hiroyuki H   Nishiyama Ayaka A   Sasai Yoshiki Y   Inoue Haruhisa H   Muguruma Keiko K  

Cell reports 20161101 6


Spinocerebellar ataxia type 6 (SCA6) is a dominantly inherited neurodegenerative disease characterized by loss of Purkinje cells in the cerebellum. SCA6 is caused by CAG trinucleotide repeat expansion in CACNA1A, which encodes Cav2.1, α1A subunit of P/Q-type calcium channel. However, the pathogenic mechanism and effective therapeutic treatments are still unknown. Here, we have succeeded in generating differentiated Purkinje cells that carry patient genes by combining disease-specific iPSCs and s  ...[more]

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