Detalhe da pesquisa
1.
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.
Hum Mol Genet;
23(21): 5814-26, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24925315
2.
Understanding the role of the Q338H MUTYH variant in oxidative damage repair.
Nucleic Acids Res;
41(7): 4093-103, 2013 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23460202
3.
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
J Biol Chem;
287(32): 27066-77, 2012 Aug 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22711529
4.
The Italian registry for patients with Prader-Willi syndrome.
Orphanet J Rare Dis;
18(1): 28, 2023 02 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36793093
5.
The interaction with HMG20a/b proteins suggests a potential role for beta-dystrobrevin in neuronal differentiation.
J Biol Chem;
285(32): 24740-50, 2010 Aug 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20530487
6.
Retinoblastoma-independent antiproliferative activity of novel intracellular antibodies against the E7 oncoprotein in HPV 16-positive cells.
BMC Cancer;
11: 17, 2011 Jan 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21241471
7.
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
Hum Mol Genet;
17(13): 2018-29, 2008 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18372317
8.
Association of dystrobrevin and regulatory subunit of protein kinase A: a new role for dystrobrevin as a scaffold for signaling proteins.
J Mol Biol;
371(5): 1174-87, 2007 Aug 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17610895
9.
The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases.
Int J Environ Res Public Health;
15(7)2018 07 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30002291
10.
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Eur J Hum Genet;
26(5): 631-643, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29396563
11.
Recommendations for Improving the Quality of Rare Disease Registries.
Int J Environ Res Public Health;
15(8)2018 08 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30081484
12.
Concerted mutation of Phe residues belonging to the beta-dystroglycan ectodomain strongly inhibits the interaction with alpha-dystroglycan in vitro.
FEBS J;
273(21): 4929-43, 2006 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17018058
13.
Molecular basis of dystrobrevin interaction with kinesin heavy chain: structural determinants of their binding.
J Mol Biol;
354(4): 872-82, 2005 Dec 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16288919
14.
Biomolecular interactions by Surface Plasmon Resonance technology.
Ann Ist Super Sanita;
41(4): 437-41, 2005.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16569911
15.
Specificity of ε and non-ε isoforms of arabidopsis 14-3-3 proteins towards the H+-ATPase and other targets.
PLoS One;
9(6): e90764, 2014.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24603559
16.
Phosphorylation on threonine 11 of ß-dystrobrevin alters its interaction with kinesin heavy chain.
FEBS J;
279(22): 4131-44, 2012 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22978324
17.
Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.
DNA Repair (Amst);
9(6): 700-7, 2010 Jun 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20418187
18.
Prion protein paralog doppel protein interacts with alpha-2-macroglobulin: a plausible mechanism for doppel-mediated neurodegeneration.
PLoS One;
4(6): e5968, 2009 Jun 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19536284
19.
Identification of key regions and genes important in the pathogenesis of sezary syndrome by combining genomic and expression microarrays.
Cancer Res;
69(21): 8438-46, 2009 Nov 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19843862
20.
The Italian National Centre for Rare Diseases: where research and public health translate into action.
Blood Transfus;
12 Suppl 3: s591-605, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24922300