Detalhe da pesquisa
1.
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.
Am J Med Genet A
; 173(1): 225-230, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27683074
2.
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.
Mol Genet Metab
; 114(3): 438-44, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25639153
3.
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.
J Med Genet
; 51(3): 170-5, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24367056
4.
Disruption of the histidine triad nucleotide-binding hint2 gene in mice affects glycemic control and mitochondrial function.
Hepatology
; 57(5): 2037-48, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22961760
5.
Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation.
Amino Acids
; 46(7): 1775-83, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24710704
6.
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
BMC Neurol
; 11: 4, 2011 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-21235791
7.
Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.
J Inherit Metab Dis
; 33 Suppl 3: S219-26, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20458543
8.
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.
Eur J Med Genet
; 60(6): 345-351, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28412374
9.
Inhibition of recombinant human maltase glucoamylase by salacinol and derivatives.
FEBS J
; 273(12): 2673-83, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16817895
10.
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Ann Clin Transl Neurol
; 2(5): 492-509, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26000322
11.
Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.
Br J Ophthalmol
; 98(10): 1453-9, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25034047
12.
Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells.
PLoS One
; 7(1): e30956, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22295121
13.
Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain.
Endocrinology
; 153(9): 4354-66, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22778212
14.
The maltase-glucoamylase gene: common ancestry to sucrase-isomaltase with complementary starch digestion activities.
Proc Natl Acad Sci U S A
; 100(3): 1432-7, 2003 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-12547908
15.
Human meprin beta: O-linked glycans in the intervening region of the type I membrane protein protect the C-terminal region from proteolytic cleavage and diminish its secretion.
Biochem J
; 369(Pt 3): 659-65, 2003 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12387727
16.
Activation of human meprin-alpha in a cell culture model of colorectal cancer is triggered by the plasminogen-activating system.
J Biol Chem
; 277(43): 40650-8, 2002 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-12189145
17.
Phorbol 12-myristate 13-acetate-induced ectodomain shedding and phosphorylation of the human meprinbeta metalloprotease.
J Biol Chem
; 278(44): 42829-39, 2003 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-12941954
18.
Disaccharidase activities in dyspeptic children: biochemical and molecular investigations of maltase-glucoamylase activity.
J Pediatr Gastroenterol Nutr
; 35(4): 551-6, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12394383
19.
Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficiencies.
J Pediatr Gastroenterol Nutr
; 35(4): 573-9, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12394387