(Q37107157)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674064%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

Role of Epg5 in selective neurodegeneration and Vici syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674064%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674064%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

author name string

Yan G Zhao

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674064%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Hongyu Zhao

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674064%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Huayu Sun

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674064%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

publication date

14 May 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674064%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674064%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674064%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674064%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

page(s)

1258-1262

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674064%20AND%20SRC:MED&resulttype=core&format=json

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

1 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Motor neuron-specific disruption of proteasomes, but not autophagy, replicates amyotrophic lateral sclerosis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

The p53-induced gene Ei24 is an essential component of the basal autophagy pathway

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Vici syndrome associated with sensorineural hearing loss and laryngomalacia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Exome sequencing reveals VCP mutations as a cause of familial ALS

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Autophagy in mammalian development and differentiation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Autophagy is essential for mouse sense of balance

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

C. elegans screen identifies autophagy genes specific to multicellular organisms

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Neural-specific deletion of FIP200 leads to cerebellar degeneration caused by increased neuronal death and axon degeneration

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Dynamics and diversity in autophagy mechanisms: lessons from yeast

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Vesicular trafficking and autophagosome formation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Autophagosome formation: core machinery and adaptations

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Autophagy and its possible roles in nervous system diseases, damage and repair

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Loss of autophagy in the central nervous system causes neurodegeneration in mice

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

Genetic classification of primary neurodegenerative disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3748201

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

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.4161%2FAUTO.24856

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.4161%2FAUTO.24856

Immunodeficiency in Vici syndrome: A heterogeneous phenotype

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.4161%2FAUTO.24856

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23674064

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Vici syndrome associated with unilateral lung hypoplasia and myopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23674064

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.4161/AUTO.24856

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674064%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674064%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

PubMed publication ID

23674064

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23674064%20AND%20SRC:MED&resulttype=core&format=json