(Q27316380)

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A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice

scientific article (publication date: 2014)

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scholarly article

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12 March 2020

A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice (English)

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12 March 2020

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DnaJ heat shock protein family (Hsp40) member C11

1 reference

GOA release 2020-03-11

Vera Kozjak-Pavlovic

3

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12 March 2020

Elias Eliopoulos

7

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12 March 2020

Giorgos Kollias

9

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12 March 2020

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12 March 2020

author name string

Fotis Ioakeimidis

1

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12 March 2020

Christine Ott

2

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12 March 2020

Foteini Violitzi

4

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12 March 2020

Vagelis Rinotas

5

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12 March 2020

Eleni Makrinou

6

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12 March 2020

Costas Fasseas

8

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12 March 2020

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11 August 2014

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12 March 2020

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12 March 2020

9

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12 March 2020

8

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12 March 2020

e104237

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12 March 2020

copyright license

Creative Commons Attribution 4.0 International

11 August 2014

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April 2022 Public Data File from Crossref

copyright status

0 references

Sam50 functions in mitochondrial intermembrane space bridging and biogenesis of respiratory complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4128653

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CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology

1 reference

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MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4128653

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

1 reference

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ANXA7, PPP3CB, DNAJC9, and ZMYND17 genes at chromosome 10q22 associated with the subgroup of schizophrenia with deficits in attention and executive function

1 reference

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ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function

1 reference

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A mitochondrial protein compendium elucidates complex I disease biology

1 reference

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Conserved roles of Sam50 and metaxins in VDAC biogenesis

1 reference

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Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

1 reference

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21 March 2017

The mitochondrial inner membrane protein mitofilin controls cristae morphology

1 reference

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1 reference

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ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

1 reference

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21 March 2017

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1 reference

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21 March 2017

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

1 reference

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The mitochondrial contact site complex, a determinant of mitochondrial architecture

1 reference

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A mitochondrial-focused genetic interaction map reveals a scaffold-like complex required for inner membrane organization in mitochondria

1 reference

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21 March 2017

Dual role of mitofilin in mitochondrial membrane organization and protein biogenesis

1 reference

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21 March 2017

The J-protein family: modulating protein assembly, disassembly and translocation

1 reference

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21 March 2017

An essential role of Sam50 in the protein sorting and assembly machinery of the mitochondrial outer membrane

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4128653

21 March 2017

Announcing the worldwide Protein Data Bank

1 reference

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21 March 2017

Identification and characterization of FLJ10737 and CAMTA1 genes on the commonly deleted region of neuroblastoma at human chromosome 1p36.31-p36.23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4128653

21 March 2017

Mitochondrial disorders in the nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4128653

21 March 2017

The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4128653

21 March 2017

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4128653

21 March 2017

Structure and dynamics of the mitochondrial inner membrane cristae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4128653

21 March 2017

Mitochondrial disorders

1 reference

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21 March 2017

Mitochondrial rhomboid PARL regulates cytochrome c release during apoptosis via OPA1-dependent cristae remodeling

1 reference

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21 March 2017

A crucial role of mitochondrial Hsp40 in preventing dilated cardiomyopathy

1 reference

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RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement

1 reference

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The Jpred 3 secondary structure prediction server

1 reference

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7 April 2017

The HSP70 chaperone machinery: J proteins as drivers of functional specificity

1 reference

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Importing mitochondrial proteins: machineries and mechanisms

1 reference

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R/qtl: QTL mapping in experimental crosses

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7 April 2017

APOOL is a cardiolipin-binding constituent of the Mitofilin/MINOS protein complex determining cristae morphology in mammalian mitochondria

1 reference

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28 September 2017

STED super-resolution microscopy reveals an array of MINOS clusters along human mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4128653

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New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies

1 reference

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Mitochondria in neuroplasticity and neurological disorders

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1 reference

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1 reference

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A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

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The role of mitochondria in inherited neurodegenerative diseases

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Mitochondrial dysfunction and neuromuscular disease

1 reference

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Recent structural insight into mitochondria gained by microscopy

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Development of central nervous system pathology in a murine transgenic model of human amyotrophic lateral sclerosis

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Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

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based on heuristic

inferred from PubMed ID database lookup

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1 reference

https://pubmed.ncbi.nlm.nih.gov/25111180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel genetic models of osteoporosis by overexpression of human RANKL in transgenic mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/25111180

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0104237

1 reference

Europe PubMed Central

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12 March 2020

2014PLoSO...9j4237I

0 references

1 reference

Europe PubMed Central

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12 March 2020

1 reference

Europe PubMed Central

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12 March 2020

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