The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1

Article Abstract:

Ataxia, progressive motor deterioration and loss of cerebellar Purkinje cells characterize spinocerebellar ataxia type 1 (SCA1), an autosomal dominant neurodegenerative disorder. In research the cerebellar leucine-rich acidic nuclear protein (LANP) was found to interact with ataxin-1, and is expressed mainly in Purkinje cells, the main site of pathology in SCA1, indicating its involvement in SCA1 pathogenesis.

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Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

Article Abstract:

The subcellular localization of wild-type human ataxin-1 and mutant ataxin-1 in the Purkinje cells of transgenic mice was examined, to understand the pathogenesis of spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disorder. Ataxin-1 was found to localize to the nuclei of cerebellar Purkinje cells. Mutant ataxin-1 was found to localize to a single nuclear structure in affected neurons.

Usage, Genetically modified mice

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Math1 is essential for genesis of cerebellar granule neurons

Article Abstract:

The cerebellum is required for fine motor control of movement and posture. A mouse homologue, Math1, of the Drosophila gene atonal, encodes a helix-loop-helix transcription factor expressed in the external germinal layer. Mice without Math1 cannot form granule cells and are born with a cerebellum lacking the external germinal layer.

Abnormalities, Cerebellum

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