Clara Sá-Miranda - Publications, H-index & Citations

Clara Sá-Miranda

university of barcelona

46H指数

169论文数

6.3K被引数

收录论文 31

发表时间

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2019-02-08

OAAI

Labrijn-Marks, Ineke; Somers-Bolman, Galhana M.; Groen, Stijn L. M. In't; Hoogeveen-Westerveld, Marianne; Kroos, Marian A.; Ala-Mello, Sirpa; Amaral, Olga; Miranda, Clara Sa; Mavridou, Irene; Michelakakis, Helen; Naess, Karin; Verheijen, Frans W.; Hoefsloot, Lies H.; Dijkhuizen, Trijnie; Benjamins, Marloes; van den Hout, Hannerieke J. M.; van der Ploeg, Ans T.; Pijnappel, W. W. M. Pim; Saris, Jasper J.; Halley, Dicky J.

Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders

MOLECULAR GENETICS AND METABOLISM

IF3.5

2016-02-01

PREAI

Ferraz, Maria J.; Marques, Andre R. A.; Gaspar, Paulo; Mirzaian, Mina; van Roomen, Cindy; Ottenhoff, Roelof; Alfonso, Pilar; Irun, Pilar; Giraldo, Pilar; Wisse, Patrick; Miranda, Clara Sa; Overkleeft, Herman S.; Aerts, Johannes M.

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis

JOURNAL OF LIPID RESEARCH

IF4.1

2014-01-01

OAAI

Gaspar, Paulo; Kallemeijn, Wouter W.; Strijland, Anneke; Scheij, Saskia; Van Eijk, Marco; Aten, Jan; Overkleeft, Herman S.; Balreira, Andrea; Zunke, Friederike; Schwake, Michael; Miranda, Clara Sa; Aerts, Johannes M. F. G.

A Cargo-centered Perspective on the PEX5 Receptor-mediated Peroxisomal Protein Import Pathway

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2013-10-01

OAAI

Francisco, Tania; Rodrigues, Tony A.; Freitas, Marta O.; Grou, Claudia P.; Carvalho, Andreia F.; Sa-Miranda, Clara; Pinto, Manuel P.; Azevedo, Jorge E.

Invariant natural killer T cells are phenotypically and functionally altered in Fabry disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2013-04-01

PREAI

Pereira, Catia S.; Azevedo, Olga; Luz Maia, M.; Dias, Ana F.; Sa-Miranda, Clara; Fatima Macedo, M.

Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model

MOLECULAR GENETICS AND METABOLISM

IF3.5

2012-05-01

PREAI

Macedo, Maria Fatima; Quinta, Rui; Pereira, Catia Sofia; Sa Miranda, Maria Clara

Identification of Ubiquitin-specific Protease 9X (USP9X) as a Deubiquitinase Acting on Ubiquitin-Peroxin 5 (PEX5) Thioester Conjugate

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2012-04-01

OAAI

Grou, Claudia P.; Francisco, Tania; Rodrigues, Tony A.; Freitas, Marta O.; Pinto, Manuel P.; Carvalho, Andreia F.; Domingues, Pedro; Wood, Stephen A.; Rodriguez-Borges, Jose E.; Sa-Miranda, Clara; Fransen, Marc; Azevedo, Jorge E.

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2012-01-01

OAAI

Giraldo, Pilar; Alfonso, Pilar; Irun, Pilar; Gort, Laura; Chabas, Amparo; Vilageliu, Lluisa; Grinberg, Daniel; Sa Miranda, Clara M.; Pocovi, Miguel

PEX5 Protein Binds Monomeric Catalase Blocking Its Tetrarnerization and Releases It upon Binding the N-terminal Domain of PEX14

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2011-11-01

OAAI

Freitas, Marta O.; Francisco, Tania; Rodrigues, Tony A.; Alencastre, Ines S.; Pinto, Manuel P.; Grou, Claudia P.; Carvalho, Andreia F.; Fransen, Marc; Sa-Miranda, Clara; Azevedo, Jorge E.

Kidney histologic alterations in α-Galactosidase-deficient mice

VIRCHOWS ARCHIV

IF3.1

2011-02-16

PREAI

Valbuena, Carmen; Oliveira, Joao Paulo; Carneiro, Fatima; Relvas, Sandra; Ganhao, Mariana; Clara Sa-Miranda, M.; Rodrigues, Lorena G.

Mapping the Cargo Protein Membrane Translocation Step into the PEX5 Cycling Pathway

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2009-10-01

OAAI

Alencastre, Ines S.; Rodrigues, Tony A.; Grou, Claudia P.; Fransen, Marc; Sa-Miranda, Clara; Azevedo, Jorge E.

Properties of the Ubiquitin-Pex5p Thiol Ester Conjugate

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2009-04-01

OAAI

Grou, Claudia P.; Carvalho, Andreia F.; Pinto, Manuel P.; Huybrechts, Sofie J.; Sa-Miranda, Clara; Fransen, Marc; Azevedo, Jorge E.

Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice

NEUROBIOLOGY OF DISEASE

IF5.6

2009-01-01

PREAI

Rodrigues, L. G.; Ferraz, M. J.; Rodrigues, D.; Pais-Vieira, M.; Lima, D.; Brady, R. O.; Sousa, M. M.; Sa-Miranda, M. C.

The peroxisomal protein import machinery - a case report of transient ubiquitination with a new flavor

CELLULAR AND MOLECULAR LIFE SCIENCES

IF6.2

2008-09-22

PREAI

Grou, C. P.; Carvalho, A. F.; Pinto, M. P.; Alencastre, I. S.; Rodrigues, T. A.; Freitas, M. O.; Francisco, T.; Sa-Miranda, C.; Azevedo, J. E.

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI:: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

MOLECULAR GENETICS AND METABOLISM

IF3.5

2008-08-01

179

PREAI

Harmatz, Paul; Giugliani, Roberto; Schwartz, Ida Vanessa D.; Guffon, Nathalie; Teles, Elisa Leao; Miranda, M. Clara Sa; Wraith, J. Edmond; Beck, Michael; Arash, Laila; Scarpa, Maurizio; Ketteridge, David; Hopwood, John J.; Plecko, Barbara; Steiner, Robert; Whitley, Chester B.; Kaplan, Paige; Yu, Zi-Fan; Swiedler, Stuart J.; Decker, Celeste

Members of the E2D (UbcH5) family mediate the ubiquitination of the conserved cysteine of Pex5p, the peroxisomal import receptor

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2008-05-01

140

OAAI

Grou, Claudia P.; Carvalho, Andreia F.; Pinto, Manuel P.; Wiese, Sebastian; Piechura, Heike; Meyer, Helmut E.; Warscheid, Bettina; Sa-Miranda, Clara; Azevedo, Jorge E.

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

HUMAN MOLECULAR GENETICS

IF3.2

2008-04-15

OAAI

Balreira, Andrea; Gaspar, Paulo; Caiola, Daniel; Chaves, Joao; Beirao, Idalina; Lima, Jose Lopes; Azevedo, Jorge Eduardo; Miranda, Maria Clara Sa

Ubiquitination of mammalian pex5p, the peroxisomal import receptor

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2007-10-01

176

OAAI

Carvalho, Andreia F.; Pinto, Manuel P.; Grou, Claudia P.; Alencastre, Ines S.; Fransen, Marc; Sa-Miranda, Clara; Azevedo, Jorge E.

Mutational analysis of 105 mucopolysaccharidosis type VI patients

HUMAN MUTATION

IF3.7

2007-09-01

101

OAAI

Karageorgos, Litsa; Brooks, Doug A.; Pollard, Anthony; Melville, Elizabeth L.; Hein, Leanne K.; Clements, Peter R.; Ketteridge, David; Swiedler, Stuart J.; Beck, Michael; Giugliani, Roberto; Harmatz, Paul; Wraith, James E.; Guffon, Nathalie; Teles, Elisa Leao; Miranda, M. Clara Sa; Hopwood, John J.

The import competence of a peroxisomal membrane protein is determined by Pex19p before the docking step

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2006-11-01

OAAI

Pinto, Manuel P.; Grou, Claudia P.; Alencastre, Ines S.; Oliveira, Marcia E.; Sa-Miranda, Clara; Fransen, Marc; Azevedo, Jorge E.

研究方向