Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. (Q30438813)

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19 February 2020

title

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy (English)

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19 February 2020

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1 reference

9

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Ay Lin Kho

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19 February 2020

Carlo Dionisi-Vici

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Michael Simpson

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Peter M Kroisel

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19 February 2020

author name string

Thomas Cullup

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Birgit Brandmeier

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Frances Smith

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Shu Yau

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Mohammed Al-Owain

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Amber E ten Hoedt

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language of work or name

English

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publication date

9 December 2012

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19 February 2020

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19 February 2020

volume

45

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19 February 2020

issue

1

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19 February 2020

page(s)

83-87

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Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability

19 February 2020

cites work

1 reference

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Autophagy genes function sequentially to promote apoptotic cell corpse degradation in the engulfing cell

20 June 2018

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20 June 2018

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Tearin' up my heart: proteolysis in the cardiac sarcomere

20 June 2018

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20 June 2018

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20 June 2018

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Interactions with LC3 and polyubiquitin chains link nbr1 to autophagic protein turnover

20 June 2018

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Mutation in BAG3 causes severe dominant childhood muscular dystrophy

20 June 2018

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Genome-wide siRNA-based functional genomics of pigmentation identifies novel genes and pathways that impact melanogenesis in human cells.

20 June 2018

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Self-eating and self-killing: crosstalk between autophagy and apoptosis

20 June 2018

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20 June 2018

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Comparative integromics on the breast cancer-associated gene KIAA1632: clues to a cancer antigen domain

20 June 2018

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20 June 2018

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The role of autophagy in cardiomyocytes in the basal state and in response to hemodynamic stress

20 June 2018

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20 June 2018

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Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II).

20 June 2018

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20 June 2018

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A critical role for the autophagy gene Atg5 in T cell survival and proliferation

20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections

20 June 2018

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20 June 2018

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20 June 2018

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Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance

20 June 2018

1 reference

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The structure of the sarcomeric M band: localization of defined domains of myomesin, M-protein, and the 250-kD carboxy-terminal region of titin by immunoelectron microscopy.

20 June 2018

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Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers

20 June 2018

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Immunodeficiency in Vici syndrome: A heterogeneous phenotype

20 June 2018

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Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

26 November 2018

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Autophagy inhibition induces atrophy and myopathy in adult skeletal muscles.

26 November 2018

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NBR1 cooperates with p62 in selective autophagy of ubiquitinated targets.

26 November 2018

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Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis.

26 November 2018

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Myopathy with respiratory failure and typical myofibrillar lesions

26 November 2018

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Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy

26 November 2018

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12 December 2020

The role of autophagy in mitochondria maintenance: characterization of mitochondrial functions in autophagy-deficient S. cerevisiae strains

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12 December 2020

Inhibition of autophagy in the heart induces age-related cardiomyopathy

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12 December 2020

Vici syndrome associated with unilateral lung hypoplasia and myopathy

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12 December 2020

Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2497

7 January 2021

inferred from DOI database lookup

A comprehensive glossary of autophagy-related molecules and processes (2nd edition)

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2497

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG.2497

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23222957%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23222957%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

PubMed publication ID

23222957

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23222957%20AND%20SRC:MED&resulttype=core&format=json