A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
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"A mitochondrial origin for frontote..." refers methods in this paper
...Proteins were measured according to Bradford microassay (Bradford, 1976)....
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...Proteins were measured according to Bradford microassay (Bradford, 1976). mtDNA molecular analysis Total DNA was extracted using standard phenol chloroform procedure....
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4,403 citations
"A mitochondrial origin for frontote..." refers methods in this paper
...15 Homology modelling of human CHCHD10 16 Using the threading program PHYRE2 (Kelley et al., 2009), 142 residues of CHCHD10 17 (Met1 to Pro142) were modeled using CHCHD5 as template (PDB ID: 2LQL)....
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...Homology modelling of human CHCHD10 Using the threading program PHYRE2 (Kelley et al., 2009), 142 residues of CHCHD10 (Met1 to Pro142) were modeled using CHCHD5 as template (PDB ID: 2LQL)....
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...Using the threading program PHYRE2 (Kelley and Sternberg, 2009), 142 residues of CHCHD10 (Met1 to Pro142) were modelled using CHCHD5 as template (PDB ID: 2LQL)....
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4,153 citations
"A mitochondrial origin for frontote..." refers background in this paper
...We identified the same missense p.Ser59Leu mutation in one of these FTD-ALS families....
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...FTD-ALS is a genetically 12 heterogeneous disorder and a hexanucleotide repeat expansion in a noncoding region of the 13 chromosome 9 open reading frame 72 (C9ORF72) gene, the function of which is unknown, 14 has been recently identified as a common cause of FTD-ALS (DeJesus-Hernandez et al., 15 2001; Renton et al., 2011)....
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...20 The observation of a frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) 21 phenotype in a mitochondrial disease led us to analyse CHCHD10 in a cohort of 21 families 22 with pathologically proven FTD-ALS....
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...This observation led us to analyse 10 CHCHD10 in FTD-ALS families with a dominant mode of transmission and to identify the 11 same missense p.Ser59Leu mutation in one of these families....
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...This observation led us to analyse CHCHD10 in FTD-ALS families with a dominant mode of transmission and to identify the same missense p.Ser59Leu mutation in one of these families....
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3,784 citations
"A mitochondrial origin for frontote..." refers background in this paper
...…12 heterogeneous disorder and a hexanucleotide repeat expansion in a noncoding region of the 13 chromosome 9 open reading frame 72 (C9ORF72) gene, the function of which is unknown, 14 has been recently identified as a common cause of FTD-ALS (DeJesus-Hernandez et al., 15 2001; Renton et al., 2011)....
[...]
...We identified the same missense p.Ser59Leu mutation in one of these FTD-ALS families....
[...]
...FTD-ALS is a genetically 12 heterogeneous disorder and a hexanucleotide repeat expansion in a noncoding region of the 13 chromosome 9 open reading frame 72 (C9ORF72) gene, the function of which is unknown, 14 has been recently identified as a common cause of FTD-ALS (DeJesus-Hernandez et al., 15 2001; Renton et al., 2011)....
[...]
...20 The observation of a frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) 21 phenotype in a mitochondrial disease led us to analyse CHCHD10 in a cohort of 21 families 22 with pathologically proven FTD-ALS....
[...]
...This observation led us to analyse 10 CHCHD10 in FTD-ALS families with a dominant mode of transmission and to identify the 11 same missense p.Ser59Leu mutation in one of these families....
[...]
1,479 citations
"A mitochondrial origin for frontote..." refers background in this paper
...MFN2 mutations are a major cause of primary axonal Charcot-Marie-Tooth Page 4 of 81 ScholarOne, 375 Greenbrier Drive, Charlottesville, VA, 22901 Support (434) 964 4100 Brain For Peer Review 4 disease type 2A (CMT2A) (Zuchner et al., 2004), an autosomal dominant neuropathy that impairs motor and sensory neurons with the longest axons resulting in earliest symptoms in distal extremities....
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...…54 of 81 ScholarOne, 375 Greenbrier Drive, Charlottesville, VA, 22901 Support (434) 964 4100 Brain For Peer Review 4 disease type 2A (CMT2A) (Zuchner et al., 2004), an autosomal dominant neuropathy that 1 impairs motor and sensory neurons with the longest axons resulting in earliest…...
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...…4 of 81 ScholarOne, 375 Greenbrier Drive, Charlottesville, VA, 22901 Support (434) 964 4100 Brain For Peer Review 4 disease type 2A (CMT2A) (Zuchner et al., 2004), an autosomal dominant neuropathy that impairs motor and sensory neurons with the longest axons resulting in earliest symptoms…...
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...MFN2 mutations are a major cause of primary axonal Charcot-Marie-Tooth 26 Page 54 of 81 ScholarOne, 375 Greenbrier Drive, Charlottesville, VA, 22901 Support (434) 964 4100 Brain For Peer Review 4 disease type 2A (CMT2A) (Zuchner et al., 2004), an autosomal dominant neuropathy that 1 impairs motor and sensory neurons with the longest axons resulting in earliest symptoms in 2 distal extremities....
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...MFN2 mutations are a major cause of primary axonal Charcot–Marie–Tooth disease type 2A (CMT2A) (Zuchner et al., 2004), an autosomal dominant neuropathy that impairs motor and sensory neurons with the longest axons resulting in earliest symptoms in distal extremities....
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