A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis (Q35040218)

5 August 2017

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis (English)

1 reference

congenital muscular dystrophy

5 August 2017

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1 reference

1 reference

Ichizo Nishino

24

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Haluk Topaloglu

23

object named as

Haluk Topaloglu

1 reference

5 August 2017

Satomi Mitsuhashi

1

1 reference

5 August 2017

Aya Ohkuma

2

1 reference

5 August 2017

Beril Talim

3

1 reference

5 August 2017

Minako Karahashi

4

1 reference

5 August 2017

Tomoko Koumura

5

1 reference

5 August 2017

Chieko Aoyama

6

1 reference

5 August 2017

Mana Kurihara

7

1 reference

5 August 2017

Ros Quinlivan

8

1 reference

5 August 2017

Caroline Sewry

9

1 reference

5 August 2017

Hiroaki Mitsuhashi

10

1 reference

5 August 2017

Kanako Goto

11

1 reference

5 August 2017

Burcu Koksal

12

1 reference

5 August 2017

Gulsev Kale

13

1 reference

5 August 2017

Kazutaka Ikeda

14

1 reference

5 August 2017

Ryo Taguchi

15

1 reference

5 August 2017

Satoru Noguchi

16

1 reference

5 August 2017

Yukiko K Hayashi

17

1 reference

5 August 2017

Ikuya Nonaka

18

1 reference

5 August 2017

Roger B Sher

19

1 reference

5 August 2017

Hiroyuki Sugimoto

20

1 reference

5 August 2017

Yasuhito Nakagawa

21

1 reference

5 August 2017

Gregory A Cox

22

1 reference

5 August 2017

language of work or name

English

0 references

publication date

1 June 2011

1 reference

American Journal of Human Genetics

5 August 2017

1 reference

5 August 2017

88

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5 August 2017

845-851

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5 August 2017

6

1 reference

Increase of oxidant-related triglycerides and phosphatidylcholines in serum and small intestinal mucosa during development of intestinal polyp formation in Min mice

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Differential expression of choline kinase isoforms in skeletal muscle explains the phenotypic variability in the rostrocaudal muscular dystrophy mouse

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Understanding the muscular dystrophy caused by deletion of choline kinase beta in mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Variant between CPT1B and CHKB associated with susceptibility to narcolepsy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Early embryonic lethality caused by disruption of the gene for choline kinase alpha, the first enzyme in phosphatidylcholine biosynthesis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Focused lipidomics by tandem mass spectrometry

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Bacterial inhibition of phosphatidylcholine synthesis triggers apoptosis in the brain

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Structure and function of choline kinase isoforms in mammalian cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

A RAPID METHOD OF TOTAL LIPID EXTRACTION AND PURIFICATION

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Expression and characterization of the active molecular forms of choline/ethanolamine kinase-alpha and -beta in mouse tissues, including carbon tetrachloride-induced liver

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Structure and characterization of the genes for murine choline/ethanolamine kinase isozymes alpha and beta

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

A new congenital muscular dystrophy with mitochondrial structural abnormalities.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Two dimensional then layer chromatographic separation of polar lipids and determination of phospholipids by phosphorus analysis of spots.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Separation and quantification of sn-1 and sn-2 fatty acid positional isomers in phosphatidylcholine by RPLC-ESIMS/MS.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Csk-homologous kinase interacts with SHPS-1 and enhances neurite outgrowth of PC12 cells.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Deletion and alanine mutation analyses for the formation of active homo- or hetero-dimer complexes of mouse choline kinase-alpha and -beta

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113344

Choline/ethanolamine kinase from rat kidney

25 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21665002

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.05.010

1 reference

5 August 2017

1 reference

5 August 2017

1 reference