Genetic disorders of cellular trafficking

Autor: Garcia-Cazorla A, De Oyarzabal-Sanz AL, Saudubray JM, Martinelly D, Dionisi-Vici C

Publikováno v: TRENDS IN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Universidad de las Islas Baleares

Cellular trafficking is essential to maintain critical biological functions. Mutations in 346 genes, most of them described in the last 5 years, are associated with disorders of cellular trafficking. Whereas initially restricted to membrane trafficki

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::7e20d5c477c7e28e8edeaf62d94e3d85
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21097

Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness

Autor: Darling A, Irún P, Giraldo P, Armstrong-Moron J, Gort L, Díaz-Conradi Á, Yubero-Siles D, De Oyarzabal-Sanz AL, Ormazabal-Herrero A, Artuch-Iriberri R, Garcia-Cazorla A, O'Callaghan-Gordo M

Publikováno v: PARKINSONISM & RELATED DISORDERS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

INTRODUCTION: Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid ß-glucosidase encoded by the GBA gene. In patients with GD, childhood onset parkinsonian features have been rarely described. METH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::3323e11f1bfa7c10a08fef46d1bea971
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19996

Energy dysfunction in Rett syndrome: studying a neurogenetic disorder from the metabolic perspective

Autor: De Oyarzabal-Sanz AL, Musokhranova U, O'Callaghan-Gordo M, Bravo Alonso, Irene, Rejas, María Teresa, Armstrong-Moron J, Rodríguez Pombo, Pilar, Garcia-Cazorla A

Publikováno v: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::078e470c67bb55284099e27a1ea51cfd
Wiley Online Library

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

Autor: Pillai NR, Yubero-Siles D, Shayota BJ, De Oyarzabal-Sanz AL, Ghosh R, Sun Q, Azamian MS, Arjona-Fernandez C, Brandi-Tarrau N, Palau F, Lalani SR, Artuch-Iriberri R, Garcia-Cazorla A, Scott DA

Publikováno v: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Hartnup disease is an autosomal recessive condition characterized by neutral aminoaciduria and behavioral problems. It is caused by a loss of B(0) AT1, a neutral amino acid transporter in the kidney and intestine. CLTRN encodes the protein collectrin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2c21f0f691e8a477a16e7ac3272728cb
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16621

Ndufs4 related Leigh syndrome: A case report and review of the literature

Autor: Ortigoza-Escobar JD, De Oyarzabal-Sanz AL, Montero-Sanchez R, Artuch-Iriberri R, Jou-Munoz C, Jimenez-Mallebrera C, Gort L, Briones P, Muchart-Lopez J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B

Publikováno v: Mitochondrion
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

The genetic causes of Leigh syndrome are heterogeneous, with a poor correlation between the phenotype and genotype. Here, we present a patient with an NDUFS4 mutation to expand the clinical and biochemical spectrum of the disease. A combined defect i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::00a57ededf9278e3dc85c55299ecb120
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12355