Publications by authors named "Maria Josep Coll"

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Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report.
Luisa Sisinni, Mercedes Pineda, Maria Josep Coll, Laura Gort, Eulalia Turon

Pediatr Transplant· November 2018

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Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1.
Judit Macías-Vidal, Martina Guerrero-Hernández, Josep Maria Estanyol, Carmen Aguado, Erwin Knecht, Maria Josep Coll

Proteomics· January 2016

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Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.
Leslie Matalonga, Ángela Arias, Frederic Tort, Xènia Ferrer-Cortés, Judit Garcia-Villoria, Maria Josep Coll

Neurotherapeutics· October 2015

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The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.
Judit Macías-Vidal, Marisa Girós, Martina Guerrero, Pere Gascón, Joan Serratosa, Maria Josep Coll

FEBS J· October 2014

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Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease.
Leslie Matalonga, Angela Arias, María Josep Coll, Judit Garcia-Villoria, Laura Gort

J Inherit Metab Dis· May 2014

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Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
Frederic Tort, María Teresa García-Silva, Xènia Ferrer-Cortès, Aleix Navarro-Sastre, Judith Garcia-Villoria, Maria Josep Coll

Mol Genet Metab· March 2014

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Natural history of Sanfilippo syndrome in Spain.
Verónica Delgadillo, Maria del Mar O'Callaghan, Laura Gort, Maria Josep Coll, Mercedes Pineda

Orphanet J Rare Dis· December 2013

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Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interference.
Laura Rodríguez-Pascau, Maria Josep Coll, Josefina Casas, Lluïsa Vilageliu, Daniel Grinberg

JIMD Rep· February 2013

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Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.
Laura Rodríguez-Pascau, Claudio Toma, Judit Macías-Vidal, Mónica Cozar, Bru Cormand, Maria Josep Coll

Mol Genet Metab· December 2012

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Diffuse hair loss in Addison disease: a reason for X-linked adrenoleukodystrophy screening.
Beatriz Lecumberri, Maria Lluisa Girós, Maria Josep Coll, Amparo Marco, Mariano Casado

J Am Acad Dermatol· May 2012

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Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.
Laura Rodríguez-Pascau, Maria Josep Coll, Lluïsa Vilageliu, Daniel Grinberg

Hum Mutat· November 2009

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Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.
Judit Macías-Vidal, Laura Gort, Montse Lluch, Mercè Pineda, Maria Josep Coll

Mol Genet Metab· May 2009

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Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.
Elena Garrido, Amparo Chabás, Maria Josep Coll, Mariana Blanco, Carmen Domínguez

Mol Genet Metab· November 2007

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Molecular analysis in two beta-mannosidosis patients: description of a new adult case.
Laura Gort, Joana Duque, José M Fabeiro, Ander Zulaica, Maria Josep Coll

Mol Genet Metab· December 2006

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Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
Raül Santamaria, Amparo Chabás, Maria Josep Coll, Clara Sa Miranda, Lluïsa Vilageliu

Hum Mutat· October 2006

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Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.
Anna Díaz-Font, Raül Santamaría, Mònica Cozar, Mariana Blanco, Néstor Chamoles, Maria Josep Coll

Mol Genet Metab· January 2006

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