Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis (Q21090977)

April 2022 Public Data File from Crossref

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

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

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Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.

12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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Cysteine string protein is required for calcium secretion coupling of evoked neurotransmission in drosophila but not for vesicle recycling.

12 September 2017

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12 September 2017

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Kufs' disease: a critical reappraisal

12 September 2017

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27 September 2017

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Proteome-level interplay between folding and aggregation propensities of proteins.

27 September 2017

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Large-scale benchmark of Endeavour using MetaCore maps

30 May 2018

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29 November 2018

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Prediction of Local Structural Stabilities of Proteins from Their Amino Acid Sequences

29 November 2018

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29 November 2018

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29 November 2018

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29 November 2018

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29 November 2018

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29 November 2018

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Expression of palmitoyl protein thioesterase in neurons

29 November 2018

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12 December 2020

Autosomal dominant Kufs' disease: a cause of early onset dementia

1 reference

12 December 2020

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

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12 December 2020

Molecular crowding accelerates fibrillization of alpha-synuclein: could an increase in the cytoplasmic protein concentration induce Parkinson's disease?

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12 December 2020

Synaptic Changes in the Thalamocortical System of Cathepsin D-Deficient Mice

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12 December 2020

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12 December 2020

Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)

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12 December 2020

10.1371/JOURNAL.PONE.0026741

Identifiers

DOI

1 reference

1076361

ADS bibcode

2011PLoSO...626741B

0 references

1076361

1 reference

1 reference

1 reference