Aquà podéis consultar las publicaciones cientÃficas más relevantes acerca de la enfermedad de Niemann-Pick, asà como tesis doctorales, y artÃculos médicos
PUBLICACIONES CIENTÍFICAS DE PROYECTOS FINANCIADOS POR LA FUNDACIÓN NIEMANN-PICK DE ESPAÑA
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. Autores: Fernandez-Valero EM, Ballart A, Iturriaga C, Lluch M, Macias J, Vanier MT, Pineda M, Coll MJ. Revista: Clin Genet. 2005 Sep;68(3):245-54
Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale. Autores: Iturriaga C, Pineda M, Fernández-Valero EM, Vanier MT, Coll MJ. Revista: J Neurol Sci. 2006 Nov 1;249(1):1-6
Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients. Autores: Rodríguez-Pascau L, Toma C, Macías-Vidal J, Cozar M, Cormand B, Lykopoulou L, Coll MJ, Grinberg D, Vilageliu Ll. Revista: Mol Genet Metab. 107:716-20, 2012.
Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease. Autores: Rodríguez-Pascau L, Coll MJ, Vilageliu L, Grinberg D. Revista: Hum Mutat. 2009 Nov;30(11):993-1001.
Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interference. Autores: Rodríguez-Pascau L, Coll MJ, Casas J, Vilageliu L, Grinberg D. Revista: JIMD Rep. 4:29-37, 2012.
Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery. Autores: Pérez B, Vilageliu L, Grinberg D, Desviat LR. Revista: Nucleic Acid Ther. 24:48-56, 2014.
New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease. Autores: Gómez-Grau M, Albaigès J, Casas J, Auladell C, Dierssen M, Vilageliu L, Grinberg D. Revista: Sci Rep. 7:41931, 2017.
Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick typeC from Spain. Autores: Macías-Vidal J, Gort L, Lluch M, Pineda M, Coll MJ. Revista: Mol Genet Metab. 2009 May;97(1):60-4 Esta Publicación obtuvo el Premio al mejor artículo científico publicado en el 2009 por un equipo de investigación español, otorgado por la Fundación para el estudio de enfermedades lisosomales (FEEL) durante el VII Congreso de enfermedades lisosomales
Molecular analysis of 30 Niemann-Pick type C patients from Spain. Autores: Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ; Spanish NPC Working Group. Revista: Clin Genet. 80:39-49, 2011. Parte de este trabajo fue presentado en el IX Congréso Nacional d'Errores Conénitos del Metabolismo, que va tenir lloc a València obteniendo el Premio a la mejor comunicación oral del congreso AECOM 2011. Comunicación: “Implicación de la degradación proteica proteasomal en la enfermedad de Niemann-Pick tipo C” Presentada por J. Macias, O. Bachs, MJ Coll
The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations. Autores: Macías-Vidal J, Girós M, Guerrero M, Gascón P, Serratosa J, Bachs O, Coll MJ. Revista: FEBS Journal. 2014 Oct;281(19):4450-66.
Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1. Autores: Macías-Vidal J, Guerrero-Hernández M, Estanyol JM, Aguado C, Knecht E, Coll MJ, Bachs O. Revista: Proteomics. 2016 Jan;16(1):150-8
NPC1 Enables Cholesterol Mobilization During Long-Term Potentiation That Can Be Restored in Niemann-Pick Disease Type C by CYP46A1 Activation Autores: Daniel N Mitroi, Guadalupe Pereyra-Gómez, Beatriz Soto-Huelin, Fernando Senovilla, Toshihide Kobayashi, Jose A Esteban, María Dolores Ledesma
PUBLICACIONES CIENTÍFICAS DE PROYECTOS FINANCIADOS POR ORGANISMOS INTERNACIONALES
Consensus clinical management guidelines for Niemann-Pick disease type C. Autores: Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR). Revista: Orphanet J Rare Dis. 2018 Apr 6;13(1):50a
LISTADO CRONOLÓGICO DE LAS PUBLICACIONES INTERNACIONALES REALIZADAS POR INVESTIGADORES ESPAÑOLES SOBRE LA ENFERMEDAD DE NIEMANN-PICK
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. Fernandez-Valero EM, Ballart A, Iturriaga C, Lluch M, Macias J, Vanier MT, Pineda M, Coll MJ.Clin Genet. 2005 Sep;68(3):245-54.
Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale. Iturriaga C, Pineda M, Fernández-Valero EM, Vanier MT, Coll MJ.J Neurol Sci. 2006 Nov 1;249(1):1-6.
Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type patients from Spain. Macías-Vidal J, Gort L, Lluch M, Pineda M, Coll MJ.Mol Genet Metab. 2009 May;97(1):60-4.
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. Rodríguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A. Hum Mutat. 2009, 30:1117-22.
Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease. Rodríguez-Pascau L, Coll MJ, Vilageliu L, Grinberg D Hum Mutat. 2009, 30:E993-E1001.
Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series. Pineda M, Perez-Poyato MS, O'Callaghan M, Vilaseca MA, Pocovi M, Domingo R, Portal LR, Pérez AV, Temudo T, Gaspar A, Peñas JJ, Roldán S, Fumero LM, de la Barca OB, Silva MT, Macías-Vidal J, Coll MJ.Mol Genet Metab. 2010 Apr;99(4):358-66.
Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series. Pineda M, Perez-Poyato MS, O'Callaghan M, Vilaseca MA, Pocovi M, Domingo R, Portal LR, Pérez AV, Temudo T, Gaspar A, Peñas JJ, Roldán S, Fumero LM, de la Barca OB, Silva MT, Macías-Vidal J, Coll MJ.Mol Genet Metab. 2010 Apr;99(4):358-66
Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes. Fraile PQ, Hernández EM, Martínez de Aragón A, Macias-Vidal J, Coll MJ, Espert AN, Silva MT.An Pediatr (Barc). 2010 Nov;73(5):257-63
Molecular analysis of 30 Niemann-Pick type C patients from Spain. Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ; Spanish NPC Working Group.Clin Genet. 2011 Jul;80(1):39-49
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry. Marc C. Patterson, Eugen Mengel, Marie T Vanier, Patrick Moneuse, Daniel Rosenberg, Mercedes Pineda.
Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients. Rodríguez-Pascau L, Toma C, Macías-Vidal J, Cozar M, Cormand B, Lykopoulou L, Coll MJ, Grinberg D, Vilageliu L. Mol Genet Metab. 2012, 107:716-20.
Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interference. Rodríguez-Pascau L, Coll MJ, Casas J, Vilageliu L, Grinberg D. JIMD Rep. 2012, 4:29-37.
Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat. Jesús S, Cáceres-Redondo MT, Carrillo F, Cordones I, Escudero M, Macías-Vidal J, Coll MJ, Bautista J, Mir P.Parkinsonism Relat Disord. 2013 Oct;19(10):916-7.
The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations. Macías-Vidal J, Girós M, Guerrero M, Gascón P, Serratosa J, Bachs O, Coll MJ.FEBS J. 2014 Oct;281(19):4450-66.
Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery. Pérez B, Vilageliu L, Grinberg D, Desviat LR. Nucleic Acid Ther. 2014, 24:48-56.
Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. Pajares S, Arias A, García-Villoria J, Macías-Vidal J, Ros E, de las Heras J, Girós M, Coll MJ, Ribes A.J Lipid Res. 2015 Oct;56(10):1926-35
Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1. Macías-Vidal J, Guerrero-Hernández M, Estanyol JM, Aguado C, Knecht E, Coll MJ, Bachs O. Proteomics. 2016 Jan;16(1):150-8.
New mutation in a young woman diagnosed with Niemann-Pick disease type C. Lario A, de Miguel C, Ojeda E, Gil S, Coll MJ, Alfonso P.Med Clin (Barc). 2016 Jun 3;146(11):494-6.
New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease. Gómez-Grau M, Albaigès J, Casas J, Auladell C, Dierssen M, Vilageliu L, Grinberg D. Sci Rep. 2017, 7:41931,.
LISTADO CRONOLÓGICO DE LAS PUBLICACIONES INTERNACIONALES SOBRE LA ENFERMEDAD DE NIEMANN-PICK C COLABORATIVAS ENTRE AUTORES ESPAÑOLES CON OTROS AUTORES DE DIVERSOS PAÍSES
Recommendations on the diagnosis and management of Niemann-Pick disease type C. NP-C Guidelines Working Group, Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E,Pineda M, Sedel F, Topçu M, Vanier MT, Widner H, Wijburg FA, Patterson MC.Mol Genet Metab. 2009 Sep-Oct;98(1-2):152-65
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Pineda M, Wraith JE, Mengel E, Sedel F, Hwu WL, Rohrbach M, Bembi B, Walterfang M, Korenke GC, Marquardt T, Luzy C, Giorgino R, Patterson MC.Mol Genet Metab. 2009 Nov;98(3):243-9.
New agents and approaches to treatment in Niemann-Pick type C disease. Pérez-Poyato MS, Pineda M.Curr Pharm Biotechnol. 2011 Jun;12(6):897-901.
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Wraith JE, Kolb SA.Neurology. 2012 May 15;78(20):1560-7. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, Vanier MT, Pineda M.Orphanet J Rare Dis. 2013 Jan 16;8:12.
Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Bauer P, Balding DJ, Klünemann HH, Linden DE, Ory DS, Pineda M, Priller J, Sedel F, Muller A, Chadha-Boreham H, Welford RW, Strasser DS, Patterson MC.Hum Mol Genet. 2013 Nov 1;22(21):4349-56.
Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island. Mavridou I, Cozar M, Douzgou S, Xaidara A, Lianou D, Vanier MT, Dimitriou E, Grinberg D, Vilageliu L, Michelakakis H. Clin Genet. 2014, 85:543-7. Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations. Wraith JE, Sedel F, Pineda M, Wijburg FA, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Chadha-Boreham H, Kolb SA.J Inherit Metab Dis. 2014, Jan;37(1):93-101.
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M; NPC Registry investigators.Orphanet J Rare Dis. 2015 May 28;10:65.
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C). Pineda M, Mengel E, Jahnová H, Héron B, Imrie J, Lourenço CM, van der Linden V, Karimzadeh P, Valayannopoulos V, Jesina P, Torres JV, Kolb SA.BMC Pediatr. 2016 Jul 22;16:107.
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA.Mol Genet Metab. 2016 Aug;118(4):244-54.
The Spectrum of Niemann-Pick Type C Disease in Greece. Mavridou I, Dimitriou E, Vanier MT, Vilageliu L, Grinberg D, Latour P, Xaidara A, Lycopoulou L, Bostantjopoulou S, Zafeiriou D, Michelakakis H. JIMD Rep. 2017, 36:41-48.
Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages. Mengel E, Pineda M, Hendriksz CJ, Walterfang M, Torres JV, Kolb SA.Mol Genet Metab. 2017 Mar;120(3):180-189.
Consensus clinical management guidelines for Niemann-Pick disease type C. Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR).Orphanet J Rare Dis. 2018 Apr 6;13(1):50.
Miglustat in Niemann-Pick disease type C patients: a review. Pineda M, Walterfang M, Patterson MC.Orphanet J Rare Dis. 2018 Aug 15;13(1):140.
Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review. Pineda M, Jurí?ková K, Karimzadeh P, Kolnikova M, Malinova V, Insua JL, Velten C, Kolb SA.Orphanet J Rare Dis. 2019 Jan 8;14(1):32.
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry. Bonnot O, Gama CS, Mengel E, Pineda M, Vanier MT, Watson L, Watissée M, Schwierin B, Patterson MC.World J Biol Psychiatry. 2019 Apr;20(4):310-319.
Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review. Pineda M, Jurí?ková K, Karimzadeh P, Kolniková M, Malinová V, Torres J, Kolb SA.Orphanet J Rare Dis. 2019 Jul 2;14(1):161
NPC1 enables cholesterol mobilization during long-term potentiation that can be restored in Niemann-Pick disease type C by CYP46A1 activation. Mitroi DN, Pereyra-Gómez G, Soto-Huelin B, Senovilla F, Kobayashi T, Esteban JA, Ledesma MD.EMBO Rep. 2019 Nov 5;20(11):e48143.
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? Sobrido MJ, Bauer P, de Koning T, Klopstock T, Nadjar Y, Patterson MC, Synofzik M, Hendriksz CJ. Orphanet J Rare Dis. 2019 Jan 21;14(1):20.
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry. Patterson M C, Mengel E, Vanier M T, Moneuse P,Rosenberg D, Pineda M. OJRD 2020 in press
PUBLICACIONES SOBRE LA ENFERMEDAD DE NIEMANN-PICK TIPOS A Y B DE AUTORES ESPAÑOLES Y EN COLABORACIÓN CON AUTORES DE OTROS PAÍSES
Identification and characterization of SMPD1 mutations causing Niemann-Picktypes A and B in Spanish patients. Rodríguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A.Hum Mutat. 2009 Jul;30(7):1117-22.
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. Zampieri S, Filocamo M, Pianta A, Lualdi S, Gort L, Coll MJ, Sinnott R, Geberhiwot T, Bembi B, Dardis A.Hum Mutat. 2016 Feb;37(2):139-47.
Sphingomyelin-induced inhibition of the plasma membrane calcium ATPase causes neurodegeneration in type A Niemann-Pick disease. Pérez-Cañamás A, Benvegnù S, Rueda CB, Rábano A, Satrústegui J, Ledesma MD. Mol Psychiatry. 2017, 22: 711-723.
TESIS DOCTORALES RESULTANTES DE LOS PROYECTOS CONCEDIDOS POR PARTE DE LA FUNDACIÓNN NIEMANN-PICK DE ESPAÑA
Título: Análisis genético y molecular de las enfermedades de Niemann-Pick A/B y C. Modelo celular y estrategias terapéuticas. Universitat de Barcelona. Doctorando: Laura Rodríguez Pascau Directores: Lluïsa Vilageliu y Daniel Grinberg Calificación: Excelente cum laude Año de lectura: 2011 Título: Aspecte molecular de dues malalties de transport lisosòmic: la cistinosi i la malaltia de Niemann-Pick tipus C. Universitat de Barcelona. Doctorando: Judit Macias Vidal Directores: Mª José Coll i Oriol Bachs Calificación: Excelente cum laude Año de lectura: 2012
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