(Q43855066)

27 November 2017

title

A hemizygous GYG2 mutation and Leigh syndrome: a possible link? (English)

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27 November 2017

8

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27 November 2017

Hirotomo Saitsu

9

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author name string

Eri Imagawa

1

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27 November 2017

Hitoshi Osaka

2

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27 November 2017

Akio Yamashita

3

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27 November 2017

Masaaki Shiina

4

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27 November 2017

Eihiko Takahashi

5

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27 November 2017

Hideo Sugie

6

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27 November 2017

Mitsuko Nakashima

7

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27 November 2017

Kazuhiro Ogata

10

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27 November 2017

Naomichi Matsumoto

11

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27 November 2017

Noriko Miyake

12

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27 November 2017

language of work or name

1 reference

8 October 2013

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27 November 2017

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27 November 2017

volume

133

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27 November 2017

issue

2

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27 November 2017

page(s)

225-234

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https://scigraph.springernature.com/pub.10.1007/s00439-013-1372-6

27 November 2017

exact match

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cites work

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1372-6

The human skeletal muscle glycogenin gene: cDNA, tissue expression and chromosomal localization.

21 January 2018

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X-linked Leigh's syndrome

21 January 2018

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Specific features of glycogen metabolism in the liver

21 January 2018

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Neuropathology and pathogenesis of mitochondrial diseases

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1372-6

Conformational plasticity of glycogenin and its maltosaccharide substrate during glycogen biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1372-6

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1372-6

Leigh and Leigh-like syndrome in children and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1372-6

Hepatic ketogenesis and gluconeogenesis in humans

21 January 2018

1 reference

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Crystal structure of the autocatalytic initiator of glycogen biosynthesis, glycogenin

21 January 2018

1 reference

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Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations

21 January 2018

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Performance of protein stability predictors.

21 January 2018

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A precursor of glycogen biosynthesis: alpha-1,4-glucan-protein

21 January 2018

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Ketone bodies: a review of physiology, pathophysiology and application of monitoring to diabetes

21 January 2018

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Subacute necrotizing encephalomyelopathy in an infant

21 January 2018

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Glycogenin: the primer for mammalian and yeast glycogen synthesis

21 January 2018

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Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

21 January 2018

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Cellular mechanisms of brain energy metabolism and their relevance to functional brain imaging.

21 January 2018

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Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene

21 January 2018

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MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect.

21 January 2018

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Glycogenin-1 deficiency and inactivated priming of glycogen synthesis

21 January 2018

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Characterization of human glycogenin-2, a self-glucosylating initiator of liver glycogen metabolism

21 January 2018

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Glycogenin-2, a novel self-glucosylating protein involved in liver glycogen biosynthesis

21 January 2018

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MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome

21 January 2018

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Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

21 January 2018

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Glycogenin is the priming glucosyltransferase required for the initiation of glycogen biogenesis in rabbit skeletal muscle

21 January 2018

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Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency

21 January 2018

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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

1 reference

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Regulation of glucose uptake by muscle. 8. Effects of fatty acids, ketone bodies and pyruvate, and of alloxan-diabetes and starvation, on the uptake and metabolic fate of glucose in rat heart and diaphragm muscles

21 January 2018

1 reference

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Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

21 January 2018

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Do rodents have a gene encoding glycogenin-2, the liver isoform of the self-glucosylating initiator of glycogen synthesis?

21 January 2018

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Mitochondrial genomes gleaned from human whole-exome sequencing

21 January 2018

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Rabbit skeletal muscle glycogenin. Molecular cloning and production of fully functional protein in Escherichia coli

21 January 2018

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12 December 2020

Effects of hypoglycaemia on neuronal metabolism in the adult brain: role of alternative substrates to glucose

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12 December 2020

MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations

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12 December 2020

Characterization of rabbit skeletal muscle glycogenin. Tyrosine 194 is essential for function

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12 December 2020

Isolation and structural analysis of a peptide containing the novel tyrosyl-glucose linkage in glycogenin

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12 December 2020

The action of branching enzymes on outer chains of glycogen

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12 December 2020

A self-glucosylating protein is the primer for rabbit muscle glycogen biosynthesis.

1 reference

12 December 2020

10.1007/S00439-013-1372-6

Identifiers

DOI

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Dimensions Publication ID

27 November 2017

1051915552

0 references

Fatcat ID

release_wdxr7gpvajdqnnhzqnvfalve5y

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wdxr7gpvajdqnnhzqnvfalve5y

24 November 2022

mapped directly with Wikidata item

1 reference