(Q92453470)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

title

Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

1 reference

Xiujuan Wei

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

Miaomiao Du

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

Jie Xie

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

Ting Luo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

Yan Zhou

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

Kun Zhang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

Jin Li

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

Deyu Chen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

Pu Xu

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

Manli Jia

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

Huaibin Zhou

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

Hezhi Fang

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

Jianxin Lyu

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

Yanling Yang

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

publication date

6 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

29 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

volume

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

page(s)

231-240

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

Recent Advances in Mitochondrial Disease

29 April 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Mitochondrial diseases

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Importing mitochondrial proteins: machineries and mechanisms

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Mitochondrial Machineries for Protein Import and Assembly

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Translocation of proteins into mitochondria

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Tim29 is a novel subunit of the human TIM22 translocase and is involved in complex assembly and stability

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Mutations in compromise cell survival in OxPhos-dependent metabolic conditions

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Interaction between the human mitochondrial import receptors Tom20 and Tom70 in vitro suggests a chaperone displacement mechanism

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Preprotein translocase of the outer mitochondrial membrane: molecular dissection and assembly of the general import pore complex

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Molecular chaperones Hsp90 and Hsp70 deliver preproteins to the mitochondrial import receptor Tom70

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Human mitochondrial import receptor Tom70 functions as a monomer

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

TOM70 Sustains Cell Bioenergetics by Promoting IP3R3-Mediated ER to Mitochondria Ca2+ Transfer.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

mtDNA Haplogroup N9a Increases the Risk of Type 2 Diabetes by Altering Mitochondrial Function and Intracellular Mitochondrial Signals

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

1 reference

7 January 2021

Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Biogenesis of mitochondrial carrier proteins: molecular mechanisms of import into mitochondria.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Tom70 is essential for PINK1 import into mitochondria

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Tom70 enhances mitochondrial preprotein import efficiency by binding to internal targeting sequences.

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

1 reference

https://api.crossref.org/works/10.1038%2FS10038-019-0714-1

7 January 2021

10.1038/S10038-019-0714-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31907385%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

1 reference