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2015 ; 22
(ä): 96-118
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Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by
defects in regulatory factors and other components required for mitochondrial
function
#MMPMID25640959
Iommarini L
; Peralta S
; Torraco A
; Diaz F
Mitochondrion
2015[May]; 22
(ä): 96-118
PMID25640959
show ga
Mitochondrial disorders are defined as defects that affect the oxidative
phosphorylation system (OXPHOS). They are characterized by a heterogeneous array
of clinical presentations due in part to a wide variety of factors required for
proper function of the components of the OXPHOS system. There is no cure for
these disorders owing to our poor knowledge of the pathogenic mechanisms of
disease. To understand the mechanisms of human disease numerous mouse models have
been developed in recent years. Here we summarize the features of several mouse
models of mitochondrial diseases directly related to those factors affecting
mtDNA maintenance, replication, transcription, translation as well as other
proteins that are involved in mitochondrial dynamics and quality control which
affect mitochondrial OXPHOS function without being intrinsic components of the
system. We discuss how these models have contributed to our understanding of
mitochondrial diseases and their pathogenic mechanisms.