51
TITLE: MODULATION OF CYSTATHIONINE BETA-SYNTHASE MUTATIONS BY CYSTEAMINE: RESCUING PROTEIN MISFOLDING?  Full Text
AUTHORS: Mendes, M; Smith, DEC; Colaco, H; Salomons, G; Ben Omran, T; Vicente, J; Tavares de Almeida, IT; Rivera, I; Leandro, P ; Blom, H;
PUBLISHED: 2012, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 35
INDEXED IN: WOS
52
TITLE: Molecular basis of clinically relevant mutations in human GALT: searching for new therapeutic approaches in classical galactosemia  Full Text
AUTHORS: Coelho, AI; Trabuco, M; Ma J Silva; de Almeida, IT; Leandro, P ; Vicente, JB; Rivera, I;
PUBLISHED: 2012, SOURCE: 22nd IUBMB Congress/37th FEBS Congress in FEBS JOURNAL, VOLUME: 279
INDEXED IN: WOS
53
TITLE: Self-association of the regulatory domain of human phenylalanine hydroxylase: contribution to the protein instability  Full Text
AUTHORS: Leandro, J; Saraste, J; Leandro, P ; Flatmark, T;
PUBLISHED: 2012, SOURCE: 22nd IUBMB Congress/37th FEBS Congress in FEBS JOURNAL, VOLUME: 279
INDEXED IN: WOS
54
TITLE: A HETEROLOGOUS EXPRESSION SYSTEM TO STUDY CBS MUTANT PROTEINS PRESENTING A DISTURBED SAM REGULATION
AUTHORS: Mendes, M; Colaco, H; Ramos, R; Smith, D; Salomons, G; Vicente, J; Tavares de Almeida, IT; Rivera, I; Blom, H; Leandro, P ;
PUBLISHED: 2011, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 34
INDEXED IN: WOS
55
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
56
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
57
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
58
TITLE: PRODUCTION AND FUNCTIONAL CHARACTERIZATION OF RECOMBINANT HUMAN GALT MUTANT FORMS: MOLECULAR BASIS OF DISEASE-CAUSING MUTATIONS IDENTIFIED IN PORTUGUESE GALACTOSEMIC PATIENTS
AUTHORS: Coelho, AI; Silva, MJ; Tavares De Almeida, IT; Leandro, P ; Vicente, JB; Rivera, I;
PUBLISHED: 2011, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 34
INDEXED IN: WOS
59
TITLE: PROTEIN ENGINEERING TO OBTAIN PHENYLALANINE HYDROXYLASE PROTEINS WITH HIGHER STABILITY
AUTHORS: Lino, PR; Lourenco, C; Leandro, J; Tavares de Almeida, IT; Almeida, AJ; Leandro, P ;
PUBLISHED: 2011, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 34
INDEXED IN: WOS
60
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
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