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Article

Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish.

Human molecular genetics - 1 Feb 2013

Aspatwar Ashok, Tolvanen Martti E E, Jokitalo Eija, Parikka Mataleena, Ortutay Csaba, Harjula Sanna-Kaisa E, Rämet Mika, Vihinen Mauno, Parkkila Seppo

Abstract excerpt

Congenital ataxia and mental retardation are mainly caused by variations in the genes that affect brain development. Recent reports have shown that mutations in the CA8 gene are associated with mental retardation and ataxia in humans and ataxia in mice. The gene product, carbonic anhydrase-related protein VIII (CARP VIII), is predominantly present in cerebellar Purkinje cells, where it interacts with the inositol...

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Identifiers

PMID: 23087022
DOI: 10.1093/hmg/dds438

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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