المؤلفون: Sui-Bing Miao, Hui Guo, De-Xian Kong, Yuan-Yuan Zhao, Shu-Hong Pan, Yan Jiang, Xing Gao, Xiao-Hua Wu

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: neuronal ceroid lipofuscinosis type 2 (CLN2), tripeptidyl peptidase I (TPP1), variant, molecular analysis, splicing assay, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.937485/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/3c948be2c8754a43b36e84160f97ca6e

المؤلفون: Dimitrova, Mashenka B.^Aff3, Atanasova, Dimitrinka Y.^{Aff4, Aff6}, Lazarov, Nikolai E.^{Aff4, Aff5}

المساهمون: Chakraborti, Sajal, editor^Aff1, Dhalla, Naranjan S., editor^Aff2

المصدر: Pathophysiological Aspects of Proteases. :147-160

المؤلفون: Mikel Aristorena, Mitch Bailey, E. Gardner, Sara E. Mole, Nicole Miller, Angela Schulz

المصدر: Human Mutation

مصطلحات موضوعية: Genotype, Protein Conformation, Disease, Molecular Dynamics Simulation, Biology, medicine.disease_cause, Aminopeptidases, Mutation Updates, lysosomal storage disorders, Structure-Activity Relationship, 03 medical and health sciences, Neuronal Ceroid-Lipofuscinoses, Databases, Genetic, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Allele, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Gene, Alleles, Genetic Association Studies, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Mutation Update, tripeptidyl peptidase I, Tripeptidyl-Peptidase 1, 030305 genetics & heredity, Neurodegeneration, neurodegeneration, genotype–phenotype correlation, medicine.disease, Tripeptidyl peptidase I, Neuronal Ceroid Lipofuscinosis Type 2, Disease Models, Animal, Phenotype, late‐infantile neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis, Serine Proteases, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f5bdbdd91ed8ad20509e96c940448d
https://doi.org/10.1002/humu.23860

المؤلفون: Maureen Gavin, Clifford A. Mevs, Elaine Marchi, Mohammed A. Junaid, Milen Velinov, Sabiha Khatoon, David Bolton

المصدر: Clinica Chimica Acta. 507:62-68

مصطلحات موضوعية: 0301 basic medicine, Proband, medicine.medical_specialty, Batten disease, Clinical Biochemistry, Biochemistry, Tripeptidyl peptidase, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, biology, business.industry, Biochemistry (medical), General Medicine, Enzyme replacement therapy, Tripeptidyl peptidase I, medicine.disease, Enzyme assay, Dried blood spot, 030104 developmental biology, Endocrinology, 030220 oncology & carcinogenesis, biology.protein, Neuronal ceroid lipofuscinosis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8d1b331c0a0f6e6ead79eb019e4d4b29
https://doi.org/10.1016/j.cca.2020.04.010

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المؤلفون: Julia Bär, Renate Lüllmann-Rauch, Mahmoud Bassal, André R. A. Marques, Lina Schmidt, Markus Damme, Markus Glatzel, Marina Mikhaylova, Niklas Thießen, Steffen E. Storck, Alessandro Di Spiezio, Udo Bartsch, Jens Fogh, Joachim Grötzinger, Paul Saftig, Claus U. Pietrzik

المصدر: Autophagy

مصطلحات موضوعية: 0301 basic medicine, proteolysis, Cathepsin D, Cathepsin B, storage, Cathepsin L, 03 medical and health sciences, Sequestosome 1, Neuronal Ceroid-Lipofuscinoses, Autophagy, medicine, Animals, Humans, Enzyme Replacement Therapy, education, Molecular Biology, Mice, Knockout, therapy, education.field_of_study, Tripeptidyl-Peptidase 1, 030102 biochemistry & molecular biology, biology, cathepsin D, enzyme replacement therapy, lysosome, neuronal ceroid lipofuscinosis, Brain, Cell Biology, Fibroblasts, Tripeptidyl peptidase I, medicine.disease, LRP1, Cell biology, Disease Models, Animal, 030104 developmental biology, biology.protein, Allograft inflammatory factor 1, Neuronal ceroid lipofuscinosis, Lysosomes, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fd5f795c8bf3b5b04b6a118a8c2b6fa
https://doi.org/10.1080/15548627.2019.1637200

المؤلفون: Giuliana Ferrante, Andrea Brambilla, Rossana Rossi, Pierluigi Mauri, Giovanni Viegi, Giovanna Cilluffo, Giovanni Corsello, Velia Malizia, Rosalia Gagliardo, Stefania La Grutta, Chiara Villa, Yvan Torrente, Dario Di Silvestre, Antonella De Palma

المساهمون: Ferrante G, Rossi R, Cilluffo G, Di Silvestre D, Brambilla A, De Palma A, Villa C, Malizia V, Gagliardo R, Torrente Y, Corsello G, Viegi G, Mauri P, La Grutta S

المصدر: Molecules, Vol 26, Iss 1258, p 1258 (2021)
Molecules (Basel, Online) 26 (2021): 1–14. doi:10.3390/molecules26051258
info:cnr-pdr/source/autori:Ferrante G; Rossi R; Cilluffo G; Di Silvestre D; Brambilla A; De Palma A; Villa C; Malizia V; Gagliardo R; Torrente Y; Corsello G; Viegi G; Mauri P; La Grutta S/titolo:Shotgun proteomics of isolated urinary extracellular vesicles for investigating respiratory impedance in healthy preschoolers/doi:10.3390%2Fmolecules26051258/rivista:Molecules (Basel, Online)/anno:2021/pagina_da:1/pagina_a:14/intervallo_pagine:1–14/volume:26
Molecules
Volume 26
Issue 5

مصطلحات موضوعية: Male, Proteome, Pharmaceutical Science, Physiology, Urine, Proteomics, Aminopeptidases, Analytical Chemistry, 0302 clinical medicine, Drug Discovery, Electric Impedance, Medicine, Respiratory system, proteomic, 0303 health sciences, Tripeptidyl-Peptidase 1, urine fractionation, Extracellular vesicle, Tripeptidyl peptidase I, Respiratory Function Tests, forced oscillation technique, Chemistry (miscellaneous), Child, Preschool, Molecular Medicine, Female, Urinary system, Receptors, Cell Surface, Article, lcsh:QD241-441, Extracellular Vesicles, 03 medical and health sciences, proteomics, lcsh:Organic chemistry, Humans, Nerve Growth Factors, Physical and Theoretical Chemistry, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Eye Proteins, Shotgun proteomics, Angiopoietin-Like Protein 2, Serpins, 030304 developmental biology, preschooler healthy children, business.industry, Organic Chemistry, Cubilin, Angiopoietin-like Proteins, 030228 respiratory system, Thy-1 Antigens, extracellular vesicle, Serine Proteases, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbc40dda6d8bc8d386ada03c4e902db5
http://hdl.handle.net/11562/1050472

المؤلفون: Andrea Nunes, Ana Paula Pereira Scholz de Magalhães, Caio Cunha, Emília Katiane Embiruçu de Araújo Leão, Roberto Giugliani, Marielza Veiga, Joanna Goes Castro Meira, Diana Rojas Málaga

المصدر: Journal of Inborn Errors of Metabolism and Screening, Volume: 8, Article number: e20200010, Published: 16 DEC 2020
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

مصطلحات موضوعية: Medicine (General), Batten disease, Childhood neurodegenerative diseases, Endocrinology, Diabetes and Metabolism, Lysosomal storage disorders, Doenças por armazenamento dos lisossomos, Bioinformatics, medicine.disease_cause, Neuronal Ceroid Lipofuscinoses, R5-920, Lysosomal Storage Disorders, medicine, Gene, Mutação, Genetics (clinical), Neuronal Ceroid-Lipofuscinoses, TPP1, Mutation, Relatos de casos, business.industry, CLN2, Lipofuscinoses ceróides nueronais, medicine.disease, Tripeptidyl peptidase I, Doenças neurodegenerativas, Phenotype, Neuronal Ceroid Lipofuscinosis Type 2, Pediatrics, Perinatology and Child Health, business

وصف الملف: text/html; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d12f8090a76dba042b274122a8bb6068
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100504&lng=en&tlng=en

المؤلفون: Dimitrova, Mashenka, Deleva, Denislava, Pavlova, Velichka, Ivanov, Ivaylo

المصدر: Cell and Tissue Research. November 2011 346(2):141-149