Detalhe da pesquisa
1.
Carbonic anhydrases in metazoan model organisms: molecules, mechanisms, and physiology.
Physiol Rev
; 102(3): 1327-1383, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35166161
2.
Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.
J Physiol
; 601(2): 257-274, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36464834
3.
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.
Hum Mol Genet
; 25(10): 1923-1933, 2016 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26911677
4.
Intrinsic thermodynamics of high affinity inhibitor binding to recombinant human carbonic anhydrase IV.
Eur Biophys J
; 47(3): 271-290, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28975383
5.
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
Am J Hum Genet
; 94(3): 453-61, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24530203
6.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
J Med Genet
; 53(6): 403-18, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908836
7.
Normal Fertility Requires the Expression of Carbonic Anhydrases II and IV in Sperm.
J Biol Chem
; 290(49): 29202-16, 2015 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26487715
8.
Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both enzymes in ammonia detoxification and glucose metabolism.
Proc Natl Acad Sci U S A
; 110(18): 7423-8, 2013 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-23589845
9.
GPI-anchored carbonic anhydrase IV displays both intra- and extracellular activity in cRNA-injected oocytes and in mouse neurons.
Proc Natl Acad Sci U S A
; 110(4): 1494-9, 2013 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23297198
10.
First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient.
Mol Genet Metab
; 114(2): 203-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25468648
11.
Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions?
Mol Genet Metab
; 114(2): 195-202, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24953405
12.
Therapies for the bone in mucopolysaccharidoses.
Mol Genet Metab
; 114(2): 94-109, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25537451
13.
Membrane associated carbonic anhydrase IV (CA IV): a personal and historical perspective.
Subcell Biochem
; 75: 157-79, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24146379
14.
Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII.
Proc Natl Acad Sci U S A
; 109(42): 17022-7, 2012 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23027951
15.
Enzyme replacement therapy on hypophosphatasia mouse model.
J Inherit Metab Dis
; 37(2): 309-317, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23978959
16.
Morquio A syndrome: diagnosis and current and future therapies.
Pediatr Endocrinol Rev
; 12 Suppl 1: 141-51, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25345096
17.
The Nobel Path of Cellular Proteins.
Mo Med
; 111(2): 114-119, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-30323516
18.
Drosophila GGA model: an ultimate gateway to GGA analysis.
Traffic
; 12(12): 1821-38, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21923734
19.
NMDA receptor-dependent afterdepolarizations are curtailed by carbonic anhydrase 14: regulation of a short-term postsynaptic potentiation.
J Neurosci
; 32(47): 16754-62, 2012 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23175829
20.
Activity and distribution of intracellular carbonic anhydrase II and their effects on the transport activity of anion exchanger AE1/SLC4A1.
J Physiol
; 591(20): 4963-82, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23878365