(Q44258509)

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title

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease (English)

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12

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13

G A Rouleau

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M Cadieux-Dion

1

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E Andermann

2

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P Lachance-Touchette

3

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O Ansorge

4

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C Meloche

5

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A Barnabé

6

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R I Kuzniecky

7

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F Andermann

8

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E Faught

9

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S Leonberg

10

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J A Damiano

11

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P Cossette

14

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publication date

7 November 2012

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volume

83

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issue

6

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page(s)

571-575

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Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

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cites work

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Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

21 January 2018

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A dominant form of neuronal ceroid-lipofuscinosis

21 January 2018

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Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama.

21 January 2018

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Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

21 January 2018

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Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

21 January 2018

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Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families

21 January 2018

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Cysteine string proteins: a potential link between synaptic vesicles and presynaptic Ca2+ channels

21 January 2018

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Tandem MS analysis of brain clathrin-coated vesicles reveals their critical involvement in synaptic vesicle recycling

21 January 2018

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Dual role of the cysteine-string domain in membrane binding and palmitoylation-dependent sorting of the molecular chaperone cysteine-string protein.

21 January 2018

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Alpha-synuclein cooperates with CSPalpha in preventing neurodegeneration

21 January 2018

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CSPα promotes SNARE-complex assembly by chaperoning SNAP-25 during synaptic activity.

21 January 2018

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The synaptic vesicle protein CSP alpha prevents presynaptic degeneration.

21 January 2018

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CSPalpha-deficiency causes massive and rapid photoreceptor degeneration

21 January 2018

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Cysteine string protein-alpha prevents activity-dependent degeneration in GABAergic synapses.

21 January 2018

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A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

21 January 2018

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CSPalpha: the neuroprotective J protein

21 January 2018

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Cell biology of protein misfolding: the examples of Alzheimer's and Parkinson's diseases

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12020

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1 December 2017

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