Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Protective protein/cathepsin A"'
Akademický článek
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Autor:
Yuto Horii, Toshiki Iniwa, Masayoshi Onitsuka, Jun Tsukimoto, Yuki Tanaka, Hironobu Ike, Yuri Fukushi, Haruna Ando, Yoshie Takeuchi, So-ichiro Nishioka, Daisuke Tsuji, Mariko Ikuo, Naoshi Yamazaki, Yoshiharu Takiguchi, Naozumi Ishimaru, Kohji Itoh
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 297-310 (2022)
Galactosialidosis (GS) is a lysosomal cathepsin A (CTSA) deficiency. It associates with a simultaneous decrease of neuraminidase 1 (NEU1) activity and sialylglycan storage. Central nervous system (CNS) symptoms reduce the quality of life of juvenile/
Externí odkaz:
https://doaj.org/article/c205affe2a714860b2af6ebf4b800e26
Autor:
Huimin Hu, Rosario Mosca, Elida Gomero, Diantha van de Vlekkert, Yvan Campos, Leigh E. Fremuth, Scott A. Brown, Jason A. Weesner, Ida Annunziata, Alessandra d’Azzo
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 644-658 (2021)
AAV-mediated gene therapy holds promise for the treatment of lysosomal storage diseases (LSDs), some of which are already in clinical trials. Yet, ultra-rare subtypes of LSDs, such as some glycoproteinoses, have lagged. Here, we report on a long-term
Externí odkaz:
https://doaj.org/article/4f4d2859730e48d497c3d91716323069
Autor:
Jaclyn Cadaoas, Huimin Hu, Gabrielle Boyle, Elida Gomero, Rosario Mosca, Kartika Jayashankar, Mike Machado, Sean Cullen, Belle Guzman, Diantha van de Vlekkert, Ida Annunziata, Michel Vellard, Emil Kakkis, Vish Koppaka, Alessandra d’Azzo
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss , Pp 191-203 (2021)
Galactosialidosis is a rare lysosomal storage disease caused by a congenital defect of protective protein/cathepsin A (PPCA) and secondary deficiency of neuraminidase-1 and β-galactosidase. PPCA is a lysosomal serine carboxypeptidase that functions
Externí odkaz:
https://doaj.org/article/d34dc77de868405aae409bdba6cc80c5
Autor:
Mike Machado, Rosario Mosca, Belle Guzman, Elida Gomero, Michel C. Vellard, Vish Koppaka, Ida Annunziata, Alessandra d'Azzo, Jaclyn Cadaoas, Gabrielle Boyle, Kartika Jayashankar, Huimin Hu, Sean Cullen, Emil D. Kakkis, Diantha van de Vlekkert
Publikováno v:
Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss, Pp 191-203 (2021)
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss, Pp 191-203 (2021)
Galactosialidosis is a rare lysosomal storage disease caused by a congenital defect of protective protein/cathepsin A (PPCA) and secondary deficiency of neuraminidase-1 and β-galactosidase. PPCA is a lysosomal serine carboxypeptidase that functions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c1131895632d26f62ec6755e79ba232
http://europepmc.org/articles/PMC7782203
http://europepmc.org/articles/PMC7782203
Autor:
Rosario Mosca, Yvan Campos, Huimin Hu, Elida Gomero, Ida Annunziata, Scott A. Brown, Leigh E. Fremuth, Alessandra d'Azzo, Jason A. Weesner, Diantha van de Vlekkert
Publikováno v:
Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss, Pp 644-658 (2021)
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss, Pp 644-658 (2021)
AAV-mediated gene therapy holds promise for the treatment of lysosomal storage diseases (LSDs), some of which are already in clinical trials. Yet, ultra-rare subtypes of LSDs, such as some glycoproteinoses, have lagged. Here, we report on a long-term
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f82391768a9793be0abd2a7c6d3be531
https://pubmed.ncbi.nlm.nih.gov/34901309
https://pubmed.ncbi.nlm.nih.gov/34901309
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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K zobrazení výsledku je třeba se přihlásit.
Autor:
Sang W. Hyun, Hideharu Ishida, Akihiro Imamura, Simeon E. Goldblum, Erik P. Lillehoj, Kurt H. Piepenbrink
Publikováno v:
The Journal of Biological Chemistry
The extracellular domain (ED) of the membrane-spanning sialoglycoprotein, mucin-1 (MUC1), is an in vivo substrate for the lysosomal sialidase, neuraminidase-1 (NEU1). Engagement of the MUC1-ED by its cognate ligand, Pseudomonas aeruginosa-expressed f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abc5cb166a1864c8274f33d17bbe381c
https://doi.org/10.1016/j.jbc.2021.101337
https://doi.org/10.1016/j.jbc.2021.101337
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Thomas Sarazin, Camille Albrecht, Pascal Maurice, Laurent Duca, Laurent Martiny, Sébastien Blaise, Béatrice Romier-Crouzet, Amar Bennasroune, Amandine Wahart, Thinhinane Hocine, Hassan El Btaouri, Aubéri Henry
Publikováno v:
FEBS Journal
FEBS Journal, Wiley, 2019, 286 (15), pp.2980-2993. ⟨10.1111/febs.14836⟩
FEBS Journal, Wiley, 2019, 286 (15), pp.2980-2993. ⟨10.1111/febs.14836⟩
The Cardiovascular Continuum describes a sequence of events from cardiovascular risk factors to end-stage heart disease. It includes conventional pathologies affecting cardiovascular functions such as hypertension, atherosclerosis or thrombosis and w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e44d2a0d7396adef2759a6f0e004ae5f
https://hal.archives-ouvertes.fr/hal-02347352
https://hal.archives-ouvertes.fr/hal-02347352
