(Q30438813)

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

19 February 2020

title

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

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

0 references

1 reference

9

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

Ay Lin Kho

2

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

Carlo Dionisi-Vici

3

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

Michael Simpson

7

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

Verity M McClelland

10

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

Istvan Bodi

30

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

Mathias Gautel

36

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

Heinz Jungbluth

37

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

23

Peter M Kroisel

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

author name string

Thomas Cullup

1

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

Birgit Brandmeier

4

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

Frances Smith

5

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

Zoe Urry

6

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

Shu Yau

8

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

Mohammed Al-Owain

11

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

Stefan Koelker

12

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

Christian Koerner

13

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

Georg F Hoffmann

14

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

Frits A Wijburg

15

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

Amber E ten Hoedt

16

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

R Curtis Rogers

17

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

David Manchester

18

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

Rie Miyata

19

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

Masaharu Hayashi

20

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

Elizabeth Said

21

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

Doriette Soler

22

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

Christian Windpassinger

24

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

Francis M Filloux

25

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

Salwa Al-Kaabi

26

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

Jozef Hertecant

27

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

Miguel Del Campo

28

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

Stefan Buk

29

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

Hans-Hilmar Goebel

31

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

Caroline A Sewry

32

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

Stephen Abbs

33

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

Shehla Mohammed

34

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

Dragana Josifova

35

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

language of work or name

English

0 references

publication date

9 December 2012

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

volume

45

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

page(s)

83-87

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

issue

1

1 reference

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

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

19 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

Guidelines for the use and interpretation of assays for monitoring autophagy

20 June 2018

1 reference

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

20 June 2018

1 reference

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Autophagy in human embryonic stem cells

20 June 2018

1 reference

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Regulation of skeletal muscle growth by the IGF1-Akt/PKB pathway: insights from genetic models

20 June 2018

1 reference

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Tearin' up my heart: proteolysis in the cardiac sarcomere

20 June 2018

1 reference

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Developmental regulation of MURF ubiquitin ligases and autophagy proteins nbr1, p62/SQSTM1 and LC3 during cardiac myofibril assembly and turnover.

20 June 2018

1 reference

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The role of autophagy during development in higher eukaryotes

20 June 2018

1 reference

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VariantClassifier: A hierarchical variant classifier for annotated genomes

20 June 2018

1 reference

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C. elegans screen identifies autophagy genes specific to multicellular organisms

20 June 2018

1 reference

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A comprehensive glossary of autophagy-related molecules and processes

20 June 2018

1 reference

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Autophagy in skeletal muscle

20 June 2018

1 reference

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Cardiomyocyte autophagy: remodeling, repairing, and reconstructing the heart

20 June 2018

1 reference

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The Sequence Alignment/Map format and SAMtools

20 June 2018

1 reference

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

20 June 2018

1 reference

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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

1 reference

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The role of autophagy in the heart.

20 June 2018

1 reference

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Autophagy in the Pathogenesis of Disease

20 June 2018

1 reference

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Autophagy: process and function

20 June 2018

1 reference

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

20 June 2018

1 reference

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Autophagy: from phenomenology to molecular understanding in less than a decade

20 June 2018

1 reference

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Innate and adaptive immunity through autophagy

20 June 2018

1 reference

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Ambra1 regulates autophagy and development of the nervous system

20 June 2018

1 reference

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

20 June 2018

1 reference

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Beta-amyloid is a substrate of autophagy in sporadic inclusion body myositis.

20 June 2018

1 reference

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

20 June 2018

1 reference

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Potential therapeutic applications of autophagy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

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

1 reference

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Protein turnover via autophagy: implications for metabolism

20 June 2018

1 reference

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

20 June 2018

1 reference

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Aggregate-prone proteins are cleared from the cytosol by autophagy: therapeutic implications

20 June 2018

1 reference

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Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease

20 June 2018

1 reference

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The consensus coding sequences of human breast and colorectal cancers

20 June 2018

1 reference

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Autophagy in cardiac myocyte homeostasis, aging, and pathology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

The kinase domain of titin controls muscle gene expression and protein turnover

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

20 June 2018

1 reference

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Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

Immunodeficiency in Vici syndrome: A heterogeneous phenotype

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

Autophagy inhibition induces atrophy and myopathy in adult skeletal muscles.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

NBR1 cooperates with p62 in selective autophagy of ubiquitinated targets.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

Myopathy with respiratory failure and typical myofibrillar lesions

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012842

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

26 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Inhibition of autophagy in the heart induces age-related cardiomyopathy

1 reference

12 December 2020

Vici syndrome associated with unilateral lung hypoplasia and myopathy

1 reference

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

1 reference

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