2
TITLE: Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients  Full Text
AUTHORS: Mendes, MIS; Colaco, HG; Smith, DEC; Ramos, RJJF; Pop, A; van Dooren, SJM; Tavares de Almeida, I; Kluijtmans, LAJ; Janssen, MCH; Rivera, I ; Salomons, GS; Leandro, P ; Blom, HJ;
PUBLISHED: 2013, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 37, ISSUE: 2
INDEXED IN: Scopus CrossRef
3
TITLE: Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
AUTHORS: Ventura, F; Leandro, P ; Luz, A; Rivera, I; Silva, M ; Ramos, R; Rocha, H; Lopes, A; Fonseca, H; Gaspar, A; Diogo, L; Martins, E; Leao Teles, E; Vilarinho, L; Tavares de Almeida, I;
PUBLISHED: 2013, SOURCE: Clinical Genetics
INDEXED IN: Scopus
4
TITLE: Heterotetrameric forms of human phenylalanine hydroxylase: Co-expression of wild-type and mutant forms in a bicistronic system  Full Text
AUTHORS: Joao Leandro ; Paula Leandro ; Torgeir Flatmark;
PUBLISHED: 2011, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1812, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
5
TITLE: Lack of Aquaporin 3 in bovine erythrocyte membranes correlates with low glycerol permeation  Full Text
AUTHORS: Elisa Campos; Teresa F Moura ; Abel Oliva ; Paula Leandro ; Graca Soveral ;
PUBLISHED: 2011, SOURCE: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, VOLUME: 408, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
6
TITLE: Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation  Full Text
AUTHORS: Leandro, J ; Simonsen, N; Saraste, J; Leandro, P ; Flatmark, T;
PUBLISHED: 2011, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1812, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
7
TITLE: The G46S-hPAH mutant protein: A model to study the rescue of aggregation-prone PKU mutations by chaperones  Full Text
AUTHORS: Joao Leandro ; Jaakko Saraste; Paula Leandro ; Torgeir Flatmark;
PUBLISHED: 2011, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 104, ISSUE: SUPPL.
INDEXED IN: Scopus WOS CrossRef
10
TITLE: Protein misfolding in conformational disorders: Rescue of folding defects and chemical chaperoning
AUTHORS: Paula Leandro ; Claudio M Gomes;
PUBLISHED: 2008, SOURCE: MINI-REVIEWS IN MEDICINAL CHEMISTRY, VOLUME: 8, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef
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