نتائج البحث - "congenital disorders of glycosylation"

1

دورية أكاديمية

New and potential strategies for the treatment of PMM2-CDG

المؤلفون: Gámez Abascal, María Alejandra, Serrano, Mercedes, Gallego Martínez, Diana, Vilas Lagoa, Alicia, Pérez González, María Belén

المساهمون: UAM. Departamento de Biología Molecular

مصطلحات موضوعية: Congenital disorders of glycosylation, Mannose, Pharmacological chaperones, Phosphomannomutase, PMM2-CDG, Proteostasis regulators, Biología y Biomedicina / Biología

وصف الملف: application/pdf

العلاقة: Biochimica et Biophysica Acta - General Subjects; https://doi.org/10.1016/j.bbagen.2020.129686Test; BBA -General Subjects 1864.11 (2020): 129686; 0304-4165 (print); http://hdl.handle.net/10486/709748Test; 129686-1; 11; 129686-34; 1864

الإتاحة: https://doi.org/10.1016/j.bbagen.2020.129686Test
http://hdl.handle.net/10486/709748Test

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2

دورية أكاديمية

New and potential strategies for the treatment of PMM2-CDG

المؤلفون: Gámez, Alejandra, Serrano, Mercedes, Gallego, Diana, Vilas, Alicia, Pérez, Belén

المساهمون: Instituto de Salud Carlos III, Comunidad de Madrid, Fundación Isabel Gemio, Fundación la Caixa, Generalitat de Catalunya, European Commission

مصطلحات موضوعية: PMM2-CDG, Phosphomannomutase, Congenital disorders of glycosylation, Mannose, Pharmacological chaperones, Proteostasis regulators

العلاقة: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020 (ISCIII)/PI19%2F01155/ES/ENFOQUE CROSS-OMICO PARA EL DESCUBRIMIENTO DE LA BASE GENETICA DE ERRORES INNATOS DEL METABOLISMO Y PARA UNA INTERVENCION TERAPEUTICA PERSONALIZADA/; info:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016 (ISCIII)/PI17%2F00101/ES/ATROFIA CEREBELOSA EN LA INFANCIA: DESARROLLO DE HERRAMIENTAS CLINICO-RADIOLOGICAS PARA UN FENOTIPADO DE PRECISION, ALGORITMO DIAGNOSTICO INTEGRAL E IDENTIFICACION DE NUEVOS GENES/; B2017/BMD-3721; The underlying dataset has been published as supplementary material of the article in the publisher platform at https://doi.org/10.1016/j.bbagen.2020.129686Test; https://doi.org/10.1016/j.bbagen.2020.129686Test; Sí; Biochimica et Biophysica Acta - General Subjects 1864(11): 129686 (2020); http://hdl.handle.net/10261/342506Test

الإتاحة: https://doi.org/10.1016/j.bbagen.2020.129686Test
http://hdl.handle.net/10261/342506Test

View record in BASE

3

Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)*

المؤلفون: Ulf Diekmann, Malte Sgodda, Dirk Hoffmann, Axel Schambach, Nicolas M.B. Huber, Falk F. R. Buettner, Erdmann Rapp, Robert Weiβmann, Samanta Cajic, Christina T. Thiesler, Doris Steinemann, Laura van Diepen, Tobias Cantz, René Hennig, Christian Körner, Astrid Oberbeck, Christian Thiel, Andreas W. Kuss, Udo Reichl

المصدر: Molecular & Cellular Proteomics : MCP
Molecular and Cellular Proteomics

مصطلحات موضوعية: 0301 basic medicine, Cell type, Glycosylation, Induced Pluripotent Stem Cells, Biology, Biochemistry, Models, Biological, Analytical Chemistry, Transcriptome, 03 medical and health sciences, Congenital Disorders of Glycosylation, Polysaccharides, medicine, Humans, Induced pluripotent stem cell, Molecular Biology, Glycomics, Cells, Cultured, Gene Expression Profiling, Technological Innovation and Resources, High-Throughput Nucleotide Sequencing, medicine.disease, 3. Good health, Cell biology, Gene expression profiling, 030104 developmental biology, Cell culture, Phosphotransferases (Phosphomutases), Immunology, Stem cell, Congenital disorder of glycosylation, Phosphomannomutase

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac8a3cb0f50b363c573061bc7ab56645Test
http://europepmc.org/articles/PMC4824866Test

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The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers

المؤلفون: Citro V1, Cimmaruta C2, Monticelli M3, Riccio G4, Hay Mele B5, 6, Cubellis MV7, Andreotti G8.

المساهمون: Citro, Valentina, Cimmaruta, Chiara, Monticelli, Maria, Riccio, Guglielmo, Hay Mele, Bruno, Cubellis, Maria Vittoria, Andreotti, Giuseppina

المصدر: International Journal of Molecular Sciences, Vol 19, Iss 8, p 2218 (2018)
International journal of molecular sciences (Online) (2018). doi:10.3390/ijms19082218
info:cnr-pdr/source/autori:Citro V1, Cimmaruta C2, Monticelli M3, Riccio G4, Hay Mele B5,6, Cubellis MV7, Andreotti G8./titolo:The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers./doi:10.3390%2Fijms19082218/rivista:International journal of molecular sciences (Online)/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume
International Journal of Molecular Sciences
Volume 19
Issue 8

مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Glycosylation, Protein Conformation, Mutant, lcsh:Chemistry, chemistry.chemical_compound, Congenital Disorders of Glycosylation, modifier genes, Missense mutation, clinical informatic, lcsh:QH301-705.5, Spectroscopy, Genetics, education.field_of_study, General Medicine, Phenotype, Computer Science Applications, disorder of glycosylation, Phosphotransferases (Phosphomutases), lipids (amino acids, peptides, and proteins), Human, congenital, hereditary, and neonatal diseases and abnormalities, Population, Mutation, Missense, macromolecular substances, Genetic Association Studie, Biology, Catalysis, Article, Inorganic Chemistry, 03 medical and health sciences, clinical informatics, Humans, variant analysi, Physical and Theoretical Chemistry, education, Molecular Biology, Gene, Loss function, Genetic Association Studies, modifier gene, Organic Chemistry, carbohydrates (lipids), variant analysis, 030104 developmental biology, chemistry, lcsh:Biology (General), lcsh:QD1-999, Mutation, Phosphomannomutase

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2d5e25a2b8db6e35672afb36b11fc64Test
http://www.mdpi.com/1422-0067/19/8/2218Test

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A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect

المؤلفون: Marta Nardella, Alessia Micalizzi, Raissa Bortolotto, Ginevra Zanni, Domenico Cieri, Francesca Vallese, Enrico Bertini, Raffaele Lopreiato, Ernesto Carafoli, Tito Calì, Giuseppe Zanotti, Mattia Vicario, Francesco Zonta, Dirk Lefeber, Enza Maria Valente, Marisa Brini

المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1863, 3303-3312
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1863, 12, pp. 3303-3312

مصطلحات موضوعية: 0301 basic medicine, Male, Ataxia, Glycosylation, Calcium signaling, Phosphomannomutase 2 mutation, Plasma membrane calcium ATPases, Pump mutation, X-linked cerebellar ataxia, Molecular Medicine, Molecular Biology, Mutation, Missense, Mannose, Biology, medicine.disease_cause, Compound heterozygosity, 03 medical and health sciences, chemistry.chemical_compound, Plasma Membrane Calcium-Transporting ATPases, 0302 clinical medicine, Congenital Disorders of Glycosylation, medicine, Missense mutation, Humans, Genetics, Mutation, Cerebellar ataxia, Brain, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 030104 developmental biology, chemistry, Phosphotransferases (Phosphomutases), Child, Preschool, Calcium, medicine.symptom, Congenital disorder of glycosylation, 030217 neurology & neurosurgery, Phosphomannomutase, HeLa Cells