Mitochondrial complex III deficiencies in the newborn infant.
Fellman, Vineta LU
(2006)
In Drug Discovery Today: Disease Mechanisms
3(4).
p.421-427
- Abstract
- New mechanisms for respiratory chain complex III diseases have recently been reported. Deletions, rearrangements and tRNA mutations of mitochondrial DNA cause deficiencies in several complexes. Mutations in the only complex III subunit encoded by mitochondrial DNA, cytochrome b, cause variable clinical phenotypes, such as cardiomyopathy or multisystemic dysfunction after birth. The homozygous serine78alanine mutation in the complex III assembling protein, BCS1L, causes a distinct phenotype, the GRACILE syndrome, whereas in other BCS1L mutations, the clinical picture is variable, but tubulopathy and liver dysfunction are typical.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1136505
- author
- Fellman, Vineta
LU
- organization
- publishing date
- 2006
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Drug Discovery Today: Disease Mechanisms
- volume
- 3
- issue
- 4
- pages
- 421 - 427
- publisher
- Elsevier
- external identifiers
-
- scopus:33847053331
- ISSN
- 1740-6765
- DOI
- 10.1016/j.ddmec.2006.11.007
- language
- English
- LU publication?
- yes
- id
- 72ee9996-820b-40e4-9a5d-28f8d89e7ad6 (old id 1136505)
- date added to LUP
- 2016-04-01 16:56:21
- date last changed
- 2022-01-28 23:12:06
@article{72ee9996-820b-40e4-9a5d-28f8d89e7ad6,
abstract = {{New mechanisms for respiratory chain complex III diseases have recently been reported. Deletions, rearrangements and tRNA mutations of mitochondrial DNA cause deficiencies in several complexes. Mutations in the only complex III subunit encoded by mitochondrial DNA, cytochrome b, cause variable clinical phenotypes, such as cardiomyopathy or multisystemic dysfunction after birth. The homozygous serine78alanine mutation in the complex III assembling protein, BCS1L, causes a distinct phenotype, the GRACILE syndrome, whereas in other BCS1L mutations, the clinical picture is variable, but tubulopathy and liver dysfunction are typical.}},
author = {{Fellman, Vineta}},
issn = {{1740-6765}},
language = {{eng}},
number = {{4}},
pages = {{421--427}},
publisher = {{Elsevier}},
series = {{Drug Discovery Today: Disease Mechanisms}},
title = {{Mitochondrial complex III deficiencies in the newborn infant.}},
url = {{http://dx.doi.org/10.1016/j.ddmec.2006.11.007}},
doi = {{10.1016/j.ddmec.2006.11.007}},
volume = {{3}},
year = {{2006}},
}