The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease (Q34129828)

31 July 2017

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title

The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease (English)

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31 July 2017

Jill M Weimer

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31 July 2017

Elizabeth Kriscenski-Perry

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31 July 2017

Yasser Elshatory

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31 July 2017

David A Pearce

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31 July 2017

language of work or name

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1 January 2002

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31 July 2017

NeuroMolecular Medicine

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31 July 2017

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31 July 2017

111-124

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31 July 2017

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https://scigraph.springernature.com/pub.10.1385/nmm:1:2:111

31 July 2017

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Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid lipofuscinosis

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The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

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The Batten disease gene product (CLN3p) is a Golgi integral membrane protein

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A lysosomal proteinase, the late infantile neuronal ceroid lipofuscinosis gene (CLN2) product, is essential for degradation of a hydrophobic protein, the subunit c of ATP synthase.

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Fine mapping of ovine ceroid lipofuscinosis confirms orthology with CLN6

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Hsp30, the integral plasma membrane heat shock protein of Saccharomyces cerevisiae, is a stress-inducible regulator of plasma membrane H(+)-ATPase

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12 December 2020

Identifiers

DOI

10.1385/NMM:1:2:111

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Dimensions Publication ID

31 July 2017

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