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Akademický článek

Long-term enzyme replacement therapy improves neurocognitive functioning and hippocampal synaptic plasticity in immune-tolerant alpha-mannosidosis mice

Autor: Stijn Stroobants, Markus Damme, Ann Van der Jeugd, Ben Vermaercke, Claes Andersson, Jens Fogh, Paul Saftig, Judith Blanz, Rudi D'Hooge

Publikováno v: Neurobiology of Disease, Vol 106, Iss , Pp 255-268 (2017)

Alpha-mannosidosis is a glycoproteinosis caused by deficiency of lysosomal acid alpha-mannosidase (LAMAN), which markedly affects neurons of the central nervous system (CNS), and causes pathognomonic intellectual dysfunction in the clinical condition

Externí odkaz: https://doaj.org/article/69731922a1654397bfd10619a9c92c07

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Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis

Autor: 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

Publikováno v: Autophagy

CTSD (cathepsin D) is one of the major lysosomal proteases indispensable for the maintenance of cellular proteostasis by turning over substrates of endocytosis, phagocytosis and autophagy. Consequently, CTSD deficiency leads to a strong impairment of

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

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Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

Autor: J. M. Hannerieke Van den Hout, Allan M. Lund, Nathalie Guffon, Line Borgwardt, Federica Cattaneo, Simon Jones, Linda De Meirleir, Yasmina Amraoui, Christine í Dali, Jens Fogh, Diego Ardigò, Ulla Haugsted, Silvia Geraci, Anna Tylki-Szymańska, Bénédicte Héron, Mercedes Gil-Campos, M Beck

Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 41(6), 1215-1223. Springer Netherlands

Introduction This phase III, double-blind, randomised, placebo-controlled trial (and extension phase) was designed to assess the efficacy and safety of velmanase alfa (VA) in alpha-mannosidosis (AM) patients. Methods Twenty-five patients were randomi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c58371aaea79cddb95019e06cf4b5d5
http://europepmc.org/articles/PMC6326984

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Analysis of cathepsin B and cathepsin L treatment to clear toxic lysosomal protein aggregates in neuronal ceroid lipofuscinosis

Autor: Paul Saftig, Lina Schmidt, Niklas Thießen, André R. A. Marques, Lisa Gallwitz, Jens Fogh, Udo Bartsch, Alessandro Di Spiezio

Publikováno v: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1867:166205

Proteolysis mediated by lysosomal cathepsin proteases maintains a physiological flow in autophagy, phagocytosis and endocytosis. Neuronal Ceroid Lipofuscinosis (NCL) is a childhood neurodegenerative disorder characterized by disturbed autophagic flow

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50a2e7e16fc0e8b19c8109d8c320d172
https://doi.org/10.1016/j.bbadis.2021.166205

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Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

Publikováno v: Journal of inherited metabolic disease, vol 41, iss 6
Journal of Inherited Metabolic Disease
Lund, A M, Borgwardt, L, Cattaneo, F, Ardigò, D, Geraci, S, Gil-Campos, M, de Meirleir, L, Laroche, C, Dolhem, P, Cole, D, Tylki-Szymanska, A, Lopez-Rodriguez, M, Guillén-Navarro, E, Dali, C I, Héron, B, Fogh, J, Muschol, N, Phillips, D, van Den Hout, J M H, Jones, S A, Amraoui, Y, Harmatz, P & Guffon, N 2018, ' Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis ', Journal of Inherited Metabolic Disease, pp. 1-9 . https://doi.org/10.1007/s10545-018-0175-2
Journal of Inherited Metabolic Disease, 41(6), 1225-1233. Springer Netherlands
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

Introduction Long-term outcome data provide important insights into the clinical utility of enzyme replacement therapies. Such data are presented for velmanase alfa in the treatment of alpha-mannosidosis (AM). Methods Patient data (n = 33; 14 adults,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b10657f8a6b539b637a12a056dd6df03
https://escholarship.org/uc/item/5270m448

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Chronic enzyme replacement therapy ameliorates neuropathology in alpha‐mannosidosis mice

Autor: Renate Lüllmann-Rauch, Markus Damme, Annika Ericsson, Judith Blanz, Paul Saftig, Michelle Rothaug, Rudi D'Hooge, Claes Andersson, Jens Fogh, Hans Christian Beck, Meike Lüdemann, Stijn Stroobants

Publikováno v: Damme, M, Stroobants, S, Lüdemann, M, Rothaug, M, Lüllmann-Rauch, R, Beck, H C, Ericsson, A, Andersson, C, Fogh, J, D’Hooge, R, Saftig, P & Blanz, J 2015, ' Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice ', Annals of Clinical and Translational Neurology, vol. 2, no. 11, pp. 987-1001 . https://doi.org/10.1002/acn3.245
Annals of Clinical and Translational Neurology

OBJECTIVE: The lysosomal storage disease alpha-mannosidosis is caused by the deficiency of the lysosomal acid hydrolase alpha-mannosidase (LAMAN) leading to lysosomal accumulation of neutral mannose-linked oligosaccharides throughout the body, includ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cafe9edce6c251b2c9548ef01ec5d45
https://doi.org/10.1002/acn3.245

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Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function

Autor: N. Taouatas, Christine í Dali, E.R. Danielsen, A. M. Thuesen, Carsten Thomsen, Allan M. Lund, K. J. Olsen, Jan-Eric Månsson, Jens Fogh, Line Borgwardt

Publikováno v: Clinical Genetics. 89:489-494

Alpha-mannosidosis (AM) (OMIM 248500) is a rare lysosomal storage disease. The understanding of the central nervous system (CNS) pathology is limited. This study is the first describing the CNS pathology and the correlation between the CNS pathology

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1601d8e224b834f1b36e6a6b6dba6bca
https://doi.org/10.1111/cge.12642

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Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy

Autor: Ulrich Matzner, Jens Fogh, Claes Andersson, Frank Matthes, Volkmar Gieselmann, David A. Wenger, Axel Stein, Carl Eistrup

Publikováno v: Experimental Neurology. 271:36-45

An inherited deficiency of β-galactosylceramidase (GALC) causes the lysosomal storage disease globoid cell leukodystrophy (GLD). The disease is characterized by the accumulation of the cytotoxic metabolite psychosine (galactosylsphingosine), causing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75cc0d641dc22bb15674259ccc6b8894
https://doi.org/10.1016/j.expneurol.2015.04.020

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