Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice

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Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice

Spino-Cerebellar-Ataxia type 38 (SCA38) is caused by missense mutations in the very long chain fatty acid elongase 5 gene, ELOVL5. The main clinical findings in this disease are ataxia, hyposmia and cerebellar atrophy. Mice in which Elovl5 has been knocked out represent a model of the loss of function hypothesis of SCA38. In agreement with this hypothesis, Elovl5 knock out mice reproduced the m...

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Since testicular orphan nuclear receptor 4 (TR4) was cloned, its physiological function has remained largely unknown. Throughout postnatal development, TR4-knockout (TR4-/-) mice exhibited behavioral deficits in motor coordination, suggesting impaired cerebellar function. Histological examination of the postnatal TR4-/- cerebellum revealed gross abnormalities in foliation; specifically, lobule ...

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ژورنال

عنوان ژورنال: Frontiers in Cellular Neuroscience

سال: 2017

ISSN: 1662-5102

DOI: 10.3389/fncel.2017.00343