Property Summary

NCBI Gene PubMed Count 1
Grant Count 42
R01 Count 18
Funding $6,085,005.74
PubMed Score 376.36
PubTator Score 390.22

Knowledge Summary

Patent

No data available

Expression

Gene RIF (86)

PMID Text
26201854 The present study revealed no association between MS and T4216C variation in the ND1 mtDNA gene in the Iranian population.
25871488 The present analysis reveals a high number (358) of mtDNA alterations and a significant decrease in complex I activity in the FTLD population.
25863085 ND1 T3866C mutation is associated with Chinese families with Leber's hereditary optic neuropathy.
25626582 MT-NDA1 new genetic mutation was found in patients with multiple congenital cardiac abnormalities.
25194554 respiratory deficiency caused by the m.3635G>A mutation results in decreased efficiency of mitochondrial ATP synthesis; these mitochondrial dysfunctions caused an increase in production of reactive oxygen species in the mutant cybrids; data provide direct evidence for the m.3635G>A mutation leading to Leber's hereditary optic neuropathy
24643264 These results demonstrate that the energetic impairment caused by the almost homoplasmic m.3571insC mutation perturbs cellular metabolism leading to a decreased steady state level of components of very important mitochondrial NAD-dependent dehydrogenases.
24430572 To investigate the pathophysiology of Leber's hereditary optic neuropathy (LHON), a cohort of 1164 Han Chinese subjects with LHON were screened for ND1 G3460A mutation.
24163135 m.3460G>A/MT-ND1 mutation caused only a reduction in mitochondrial complex I(CI) activity, whereas the m.3571insC/MT-ND1 and the m.3243A>G/MT-TL1 mutations induced a severe structural and functional CI alteration.
24105702 we describe here a heteroplasmic mutation in the MT-ND1 gene that strongly suggest to cause epileptic encephalopathy: West syndrome (WS) patient with unidentified etiology that evolved to Lennox-Gastaut syndrome.
24002810 In Sherpa people, 2 mutations are ND1 mutants. One of them was reported as the primary mutation for Leber's hereditary optic neuropathy suggesting a certain effect on Complex I function and might be important in the altitude adaptation for Sherpa people.
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AA Sequence

MPMANLLLLIVPILIAMAFLMLTERKILGYMQLRKGPNVVGPYGLLQPFADAMKLFTKEPLKPATSTITL      1 - 70
YITAPTLALTIALLLWTPLPMPNPLVNLNLGLLFILATSSLAVYSILWSGWASNSNYALIGALRAVAQTI     71 - 140
SYEVTLAIILLSTLLMSGSFNLSTLITTQEHLWLLLPSWPLAMMWFISTLAETNRTPFDLAEGESELVSG    141 - 210
FNIEYAAGPFALFFMAEYTNIIMMNTLTTTIFLGTTYDALSPELYTTYFVTKTLLLTSLFLWIRTAYPRF    211 - 280
RYDQLMHLLWKNFLPLTLALLMWYVSMPITISSIPPQT                                    281 - 318
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Text Mined References (25)

PMID Year Title
26201854 2015 Mitochondrial DNA T4216C and A4917G variations in multiple sclerosis.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24105702 2013 Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.
21144833 2011 A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.
19243582 2009 Mitochondrial DNA haplogroup H structure in North Africa.
15265369 2004 Relationship between mutations of mitochondrial DNA ND1 gene and type 2 diabetes.
14760490 2004 Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.
12949126 2003 Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.
12840039 2003 Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.
12611891 2003 The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.
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