(Q36331577)

English

PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction

scientific article published on 12 October 2015

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

0 references

left ventricular noncompaction

1 reference

based on heuristic

inferred from title

dilated cardiomyopathy

1 reference

based on heuristic

inferred from title

object named as

Yoram Etzion

8

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author name string

Emad Muhammad

1

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Aviva Levitas

2

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Sonia R Singh

3

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Alex Braiman

4

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Rivka Ofir

5

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Sharon Etzion

6

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Val C Sheffield

7

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Lucie Carrier

9

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Europe PubMed Central

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13 August 2017

Ruti Parvari

10

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Europe PubMed Central

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13 August 2017

publication date

12 October 2015

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Europe PubMed Central

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13 August 2017

Human Molecular Genetics

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Europe PubMed Central

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13 August 2017

24

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Europe PubMed Central

PMC publication ID

13 August 2017

25

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Europe PubMed Central

PMC publication ID

13 August 2017

7227-7240

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Europe PubMed Central

PMC publication ID

13 August 2017

describes a project that uses

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4664165/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

The PI3K/AKT/mTOR pathway is a potential predictor of distinct invasive and migratory capacities in human ovarian cancer cell lines

1 reference

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30 September 2017

Isolated Noncompaction of the Left Ventricle in Adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

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Cardiac fibroblasts as sentinel cells in cardiac tissue: Receptors, signaling pathways and cellular functions

1 reference

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30 September 2017

Left ventricular noncompaction: a distinct cardiomyopathy or a trait shared by different cardiac diseases?

1 reference

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Regulation of cell proliferation and migration by p62 through stabilization of Twist1.

1 reference

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The role of the autophagy in myocardial ischemia/reperfusion injury

1 reference

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30 September 2017

Autophagy and SQSTM1 on the RHOA(d) again: emerging roles of autophagy in the degradation of signaling proteins

1 reference

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Signalphagy: scheduled signal termination by macroautophagy.

1 reference

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30 September 2017

Congenital myopathy is caused by mutation of HACD1.

1 reference

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30 September 2017

Molecular mechanism of ventricular trabeculation/compaction and the pathogenesis of the left ventricular noncompaction cardiomyopathy (LVNC)

1 reference

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30 September 2017

2013 ACCF/AHA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

1 reference

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30 September 2017

Autophagy plays a critical role in the degradation of active RHOA, the control of cell cytokinesis, and genomic stability.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Genetic mutations and mechanisms in dilated cardiomyopathy

1 reference

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30 September 2017

Guidelines for the use and interpretation of assays for monitoring autophagy

1 reference

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30 September 2017

The mutations associated with dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

ESC guidelines for the diagnosis and treatment of acute and chronic heart failure 2012: The Task Force for the Diagnosis and Treatment of Acute and Chronic Heart Failure 2012 of the European Society of Cardiology. Developed in collaboration with the

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Where genome meets phenome: rationale for integrating genetic and protein biomarkers in the diagnosis and management of dilated cardiomyopathy and heart failure.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Left ventricular noncompaction: a diagnostically challenging cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Genetics of hypertrophic and dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Arl8 and SKIP act together to link lysosomes to kinesin-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Review and metaanalysis of the frequency of familial dilated cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Tuning flux: autophagy as a target of heart disease therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Left Ventricular Noncompaction: A New Form of Heart Failure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Analysis of ventricular hypertrabeculation and noncompaction using genetically engineered mouse models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Autophagy in ischemic heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

The Salmonella virulence protein SifA is a G protein antagonist

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Mutations in sarcomere protein genes in left ventricular noncompaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Autophagy in the Pathogenesis of Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Genetic heterogeneity of left-ventricular noncompaction cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Genetics of dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Rabs and their effectors: achieving specificity in membrane traffic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Isolated ventricular non-compaction of the myocardium in adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

The intracellular fate of Salmonella depends on the recruitment of kinesin

1 reference

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30 September 2017

Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey

1 reference

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30 September 2017

Salmonella impairs RILP recruitment to Rab7 during maturation of invasion vacuoles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Recommendations for quantitation of the left ventricle by two-dimensional echocardiography. American Society of Echocardiography Committee on Standards, Subcommittee on Quantitation of Two-Dimensional Echocardiograms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Isolated noncompaction of left ventricular myocardium. A study of eight cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

Isolated noncompaction of the myocardium in adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

30 September 2017

SKIP, the host target of the Salmonella virulence factor SifA, promotes kinesin-1-dependent vacuolar membrane exchanges.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

29 June 2018

Tafazzin knockdown causes hypertrophy of neonatal ventricular myocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

29 June 2018

The role of membrane-trafficking small GTPases in the regulation of autophagy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

Genome-wide investigation of the Rab binding activity of RUN domains: development of a novel tool that specifically traps GTP-Rab35.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

BAG3-related myofibrillar myopathy in a Chinese family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

Prognosis of left ventricular hypertrabeculation/noncompaction is dependent on cardiac and neuromuscular comorbidity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

Histological appearance of left ventricular hypertrabeculation/noncompaction.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

Frequency and phenotypes of familial dilated cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

Echocardiographic measurements in normal subjects from infancy to old age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4664165

22 September 2018

Supraventricular arrhythmias in noncompaction of left ventricle: Is this a frequent complication?

1 reference

https://pubmed.ncbi.nlm.nih.gov/26464484

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Left ventricular noncompaction: a pathological study of 14 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/26464484

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/26464484

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/26464484

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/26464484

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inhibition of autophagy in the heart induces age-related cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/26464484

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial dilated cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/26464484

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDV423

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

ResearchGate publication ID

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