Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1

Autor: Erwin Knecht, Martina Guerrero-Hernández, Carmen Aguado, Judit Macías-Vidal, Maria Josep Coll, Oriol Bachs, Josep Maria Estanyol

Publikováno v: PROTEOMICS
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
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r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)

Niemann-Pick type C (NPC) disease is an inherited lysosomal storage disorder, characterized by severe neurodegeneration. It is mostly produced by mutations in the NPC1 gene, encoding for a protein of the late endosomes/lysosomes membrane, involved in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84adb0efad087ab0ac43a978eda05139
https://doi.org/10.1002/pmic.201500110

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons

Autor: Angela Arias, Maria Josep Coll, Leslie Matalonga, Judit García-Villoria, Laura Gort, Antonia Ribes, Frederic Tort, Xènia Ferrer-Cortès

Publikováno v: Neurotherapeutics. 12:874-886

Aminoglycoside antibiotics, such as gentamicin, may induce premature termination codon (PTC) readthrough and elude the nonsense-mediated mRNA decay mechanism. Because PTCs are frequently involved in lysosomal diseases, readthrough compounds may be us

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b405391767145ae9ba5dd60758af1e35
https://doi.org/10.1007/s13311-015-0368-4

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles

Autor: Mercedes Pineda, M Szlago, A Chabás, Isaac Canals, IC Jaouad, Maria Josep Coll, Lluïsa Vilageliu, Siham Chafai Elalaoui, Daniel Grinberg, Verónica Delgadillo, Abdelaziz Sefiani

Publikováno v: Clinical Genetics. 80:367-374

The Sanfilippo syndrome type C [mucopolysaccharidosis IIIC (MPS IIIC)] is caused by mutations in the HGSNAT gene, encoding an enzyme involved in heparan sulphate degradation. We report the first molecular study on several Spanish Sanfilippo syndrome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85acb83b35fce1f88ec8c912c8d92bfa
https://doi.org/10.1111/j.1399-0004.2010.01525.x

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in theNPC1gene causing Niemann-Pick type C disease

Autor: Lluïsa Vilageliu, Maria Josep Coll, Daniel Grinberg, Laura Rodríguez-Pascau

Publikováno v: Human Mutation. 30:E993-E1001

Niemann-Pick type C disease is an autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. While most of the mutations are missense, a few splicing mutations have also been described. We identified and characterized a novel p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc63beb1291a54bcfba3455c1223f77
https://doi.org/10.1002/humu.21119

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation

Autor: Néstor A. Chamoles, Lluïsa Vilageliu, Raül Santamaria, Maria Josep Coll, Daniel Grinberg, Mariana Blanco, Anna Diaz-Font, Amparo Chabás, Mónica Cozar

Publikováno v: Molecular Genetics and Metabolism. 86:206-211

Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disease characterized by impaired activity of all known sulfatases. The gene SUMF1, recently identified, encodes the enzyme responsible for post-translational modific

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb098bed4b1391d54f1b6f4256774b6
https://doi.org/10.1016/j.ymgme.2005.07.004