PMID- 11735375
OWN - NLM
STAT- MEDLINE
DCOM- 20020520
LR  - 20061115
IS  - 1084-9521 (Print)
IS  - 1084-9521 (Linking)
VI  - 12
IP  - 6
DP  - 2001 Dec
TI  - The expanding spectrum of nuclear gene mutations in mitochondrial disorders.
PG  - 407-16
AB  - Our understanding of the molecular basis of mitochondrial disorders has come 
      primarily from the discovery of an expanding number of mutations of mtDNA. 
      However, a variety of recent observations indicate that many syndromes are due to 
      abnormalities in nuclear genes related to oxidative-phosphorylation (OXPHOS). 
      Nuclear genes encode hundreds of proteins involved in mitochondrial OXPHOS. 
      Nevertheless, the identification of these genes has proceeded at a much slower 
      pace, compared with the discovery and characterization of mtDNA mutations. This 
      scenario is rapidly changing, thanks to the discovery of several OXPHOS-related 
      human genes, and to the identification of mutations responsible for different 
      clinical syndromes.
CI  - Copyright 2001 Academic Press.
FAU - Zeviani, M
AU  - Zeviani M
AD  - Division of Biochemistry and Genetics, Carlo Besta National Neurological 
      Institute, via Celoria 11, 20133 Milan, Italy. zeviani@tin.it
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - England
TA  - Semin Cell Dev Biol
JT  - Seminars in cell & developmental biology
JID - 9607332
RN  - 0 (DNA, Mitochondrial)
SB  - IM
MH  - Animals
MH  - Child
MH  - DNA, Mitochondrial/genetics
MH  - Humans
MH  - Infant
MH  - Mice
MH  - Mitochondrial Diseases/*genetics/metabolism
MH  - Models, Animal
MH  - *Mutation
MH  - Neurodegenerative Diseases/genetics
MH  - *Oxidative Phosphorylation
RF  - 82
EDAT- 2001/12/12 10:00
MHDA- 2002/05/22 10:01
CRDT- 2001/12/12 10:00
PHST- 2001/12/12 10:00 [pubmed]
PHST- 2002/05/22 10:01 [medline]
PHST- 2001/12/12 10:00 [entrez]
AID - S1084-9521(01)90278-2 [pii]
AID - 10.1006/scdb.2001.0278 [doi]
PST - ppublish
SO  - Semin Cell Dev Biol. 2001 Dec;12(6):407-16. doi: 10.1006/scdb.2001.0278.