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A1008P
the mutation is associated with familial glucocorticoid deficiency
A533V
the mutation is associated with familial glucocorticoid deficiency
A553V
the mutation is associated with familial glucocorticoid deficiency
D277Y
the mutation is associated with left ventricular noncompaction
G664R
the mutation is associated with familial glucocorticoid deficiency
G678A
the mutation is associated with familial glucocorticoid deficiency
G678R
the mutation is associated with familial glucocorticoid deficiency
G862D
the mutation is associated with familial glucocorticoid deficiency
H365P
the mutation is associated with familial glucocorticoid deficiency
L977P
the mutation is associated with familial glucocorticoid deficiency
N1009K
the mutation is associated with familial glucocorticoid deficiency
P437L
the mutation is associated with familial glucocorticoid deficiency
T357A
the mutation is associated with familial glucocorticoid deficiency
Y201K
the mutation is associated with familial glucocorticoid deficiency
Y388S
the mutation is associated with familial glucocorticoid deficiency
F215S
the mutant shows 31% of wild type activity
F215S
the mutation is associated with familial glucocorticoid deficiency
G200S
-
the mutation is associated with familial glucocorticoid deficiency
G200S
the mutation is associated with combined mineralocorticoid and glucocorticoid deficiency
S193N
the mutation is associated with familial glucocorticoid deficiency
S193N
the mutation is associated with FGD
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Peake, S.J.; Venning, J.D.; Jackson, J.B.
A catalytically active complex formed from the recombinant dI protein of Rhodospirillum rubrum transhydrogenase, and the recombinant dIII protein of the human enzyme
Biochim. Biophys. Acta
1411
159-169
1999
Homo sapiens, Rhodospirillum rubrum
brenda
Jackson, J.B.; White, S.A.; Quirk, P.G.; Venning, J.D.
The alternating site, binding change mechanism for proton translocation by Transhydrogenase
Biochemistry
41
4173-4185
2002
Bos taurus, Escherichia coli, Entamoeba histolytica, Homo sapiens, Rhodospirillum rubrum
brenda
Arkblad, E.L.; Egorov, M.; Shakhparonov, M.; Romanova, L.; Polzikov, M.; Rydstrom, J.
Expression of proton-pumping nicotinamide nucleotide transhydrogenase in mouse, human brain and C. elegans
Comp. Biochem. Physiol. B
133
13-21
2002
Caenorhabditis elegans, Homo sapiens, Mus musculus
brenda
Singh, A.; Venning, J.D.; Quirk, P.G.; van Boxel, G.I.; Rodrigues, D.J.; White, S.A.; Jackson, J.B.
Interactions between transhydrogenase and thio-nicotinamide Analogues of NAD(H) and NADP(H) underline the importance of nucleotide conformational changes in coupling to proton translocation
J. Biol. Chem.
278
33208-33216
2003
Rhodospirillum rubrum, Homo sapiens (Q13423)
brenda
Sheeran, F.L.; Rydstroem, J.; Shakhparonov, M.I.; Pestov, N.B.; Pepe, S.
Diminished NADPH transhydrogenase activity and mitochondrial redox regulation in human failing myocardium
Biochim. Biophys. Acta
1797
1138-1148
2010
Homo sapiens (Q13423), Homo sapiens
brenda
Meimaridou, E.; Kowalczyk, J.; Guasti, L.; Hughes, C.; Wagner, F.; Frommolt, P.; Nuernberg, P.; Mann, P.; Banerjee, R.; Saka, H.N.; Chapple, J.P.; King, P.J,; Clark, A.J.L.; Metherell, L.A.
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency
Nat. Genet.
44
740-742
2012
Homo sapiens (Q13423)
brenda
White, S.A.; Peake, S.J.; McSweeney, S.; Leonard, G.; Cotton, N.P.; Jackson, J.B.
The high-resolution structure of the NADP(H)-binding component (dIII) of proton-translocating transhydrogenase from human heart mitochondria
Structure
8
1-12
2000
Homo sapiens (Q13423), Homo sapiens
brenda
Fujisawa, Y.; Napoli, E.; Wong, S.; Song, G.; Yamaguchi, R.; Matsui, T.; Nagasaki, K.; Ogata, T.; Giulivi, C.
Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency
BBA Clin.
3
70-78
2015
Homo sapiens (Q13423)
brenda
Scott, R.; Van Vliet, G.; Deladoey, J.
Association of adrenal insufficiency with insulin-dependent diabetes mellitus in a patient with inactivating mutations in nicotinamide nucleotide transhydrogenase A phenocopy of the animal model
Eur. J. Endocrinol.
176
C1-C2
2017
Homo sapiens
brenda
Metherell, L.A.; Guerra-Assuncao, J.A.; Sternberg, M.J.; David, A.
three-dimensional model of human nicotinamide nucleotide transhydrogenase (NNT) and sequence-structure analysis of its disease-causing variations
Hum. Mutat.
37
1074-1084
2016
Homo sapiens (Q13423)
brenda
Gameiro, P.A.; Laviolette, L.A.; Kelleher, J.K.; Iliopoulos, O.; Stephanopoulos, G.
Cofactor balance by nicotinamide nucleotide transhydrogenase (NNT) coordinates reductive carboxylation and glucose catabolism in the tricarboxylic acid (TCA) cycle
J. Biol. Chem.
288
12967-12977
2013
Homo sapiens
brenda
Weinberg-Shukron, A.; Abu-Libdeh, A.; Zhadeh, F.; Carmel, L.; Kogot-Levin, A.; Kamal, L.; Kanaan, M.; Zeligson, S.; Renbaum, P.; Levy-Lahad, E.; Zangen, D.
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress
J. Med. Genet.
52
636-641
2015
Homo sapiens
brenda