2006
DOI: 10.1074/jbc.m512578200
|View full text |Cite
|
Sign up to set email alerts
|

A Rostrocaudal Muscular Dystrophy Caused by a Defect in Choline Kinase Beta, the First Enzyme in Phosphatidylcholine Biosynthesis

Abstract: Muscular dystrophies include a diverse group of genetically heterogeneous disorders that together affect 1 in 2000 births worldwide. The diseases are characterized by progressive muscle weakness and wasting that lead to severe disability and often premature death. Rostrocaudal muscular dystrophy (rmd) is a new recessive mouse mutation that causes a rapidly progressive muscular dystrophy and a neonatal forelimb bone deformity. The rmd mutation is a 1.6-kb intragenic deletion within the choline kinase beta (Chkb… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1

Citation Types

4
102
1
1

Year Published

2007
2007
2024
2024

Publication Types

Select...
9

Relationship

2
7

Authors

Journals

citations
Cited by 110 publications
(108 citation statements)
references
References 69 publications
4
102
1
1
Order By: Relevance
“…Mice that do not express either CKa isoform die at an early stage of embryogenesis, around day 3 (17). Mice that lack CKb are viable but develop rostrocaudal muscular dystrophy and neonatal bone deformity (18). The connection between PC synthesis and muscular dystrophy in Chkb 2/2 mice remains unclear.…”
Section: Choline Kinasementioning
confidence: 99%
“…Mice that do not express either CKa isoform die at an early stage of embryogenesis, around day 3 (17). Mice that lack CKb are viable but develop rostrocaudal muscular dystrophy and neonatal bone deformity (18). The connection between PC synthesis and muscular dystrophy in Chkb 2/2 mice remains unclear.…”
Section: Choline Kinasementioning
confidence: 99%
“…1 ) ( 3-7 ). Defects in the genes coding for calpain-3, choline kinase ␤ , AMP-dependent protein kinase, and desmin have been shown to cause LGMD2A, rostrocaudal MD, myotonic MD, and desminopathies, respectively ( Table 1 , Table 2 ) ( 4,(8)(9)(10)(11)(12). The mutations that underlie these skeletal muscle abnormalities also commonly affect cardiac muscle, resulting in a deterioration of heart function ( 1,2,(12)(13)(14)(15).…”
Section: Fatty Acid Uptake and Intracellular Transportmentioning
confidence: 99%
“…Phosphatidylcholine (PC) 4 is quantitatively the most important phospholipid in mammalian membranes, is the primary phospholipid in bile and in plasma lipoproteins, and is a precursor for the synthesis of sphingomyelin and phosphatidylserine. In nucleated cells, PC biosynthesis occurs via the Kennedy (CDP-choline) pathway.…”
mentioning
confidence: 99%
“…Choline kinase (CK), the enzyme catalyzing the first committed step in this pathway, phosphorylates choline to form phosphocholine. Choline kinase is not considered an important site in regulating PC biosynthesis (1-3); however, deletion of the CK␤ isoform results in muscular dystrophy in mice due to lack of PC in muscle (4). CTP:phosphocholine cytidylyltransferase (CT), which catalyzes the rate-limiting conversion of phosphocholine to CDPcholine (1)(2)(3), is the most extensively studied enzyme in the Kennedy pathway.…”
mentioning
confidence: 99%