Zobrazeno 1 - 10
of 1 298
pro vyhledávání: '"glucocerebrosidase enzyme"'
Autor:
Janpipatkul, Keatdamrong1 (AUTHOR), Sutjarit, Nareerat2 (AUTHOR), Tangprasittipap, Amornrat3 (AUTHOR), Chaiamarit, Tai4 (AUTHOR), Innachai, Pawarit3 (AUTHOR), Suksen, Kanoknetr4 (AUTHOR), Chokpanuwat, Tanida4 (AUTHOR), Tim-Aroon, Thipwimol5 (AUTHOR), Anurathapan, Usanarat5 (AUTHOR), Jearawiriyapaisarn, Natee6 (AUTHOR), Tubsuwan, Alisa6 (AUTHOR), Bowornpinyo, Supareak7,8 (AUTHOR), Asavapanumas, Nithi9 (AUTHOR), Chairoungdua, Arthit4,8 (AUTHOR), Bhukhai, Kanit4 (AUTHOR) kanit.bhu@mahidol.ac.th, Hongeng, Suradej5,8 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 10/2/2024, Vol. 19 Issue 1, p1-14. 14p.
Autor:
Keatdamrong Janpipatkul, Nareerat Sutjarit, Amornrat Tangprasittipap, Tai Chaiamarit, Pawarit Innachai, Kanoknetr Suksen, Tanida Chokpanuwat, Thipwimol Tim-Aroon, Usanarat Anurathapan, Natee Jearawiriyapaisarn, Alisa Tubsuwan, Supareak Bowornpinyo, Nithi Asavapanumas, Arthit Chairoungdua, Kanit Bhukhai, Suradej Hongeng
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Gaucher disease (GD) is one of the most common types of lysosomal storage diseases (LSDs) caused by pathogenic variants of lysosomal β-glucocerebrosidase gene (GBA1), resulting in the impairment of Glucocerebrosidase (GCase) enzy
Externí odkaz:
https://doaj.org/article/59a850ee25e242c784be1f2144fdcbd3
Autor:
Perez-Abshana, Laura Patricia1 (AUTHOR) lpatricia.perez@udea.edu.co, Mendivil-Perez, Miguel1 (AUTHOR), Velez-Pardo, Carlos1 (AUTHOR), Jimenez-Del-Rio, Marlene1 (AUTHOR) marlene.jimenez@udea.edu.co
Publikováno v:
International Journal of Molecular Sciences. Jul2023, Vol. 24 Issue 13, p10589. 26p.
Autor:
Laura Patricia Perez-Abshana, Miguel Mendivil-Perez, Carlos Velez-Pardo, Marlene Jimenez-Del-Rio
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 13, p 10589 (2023)
Parkinson’s disease (PD) is a neurodegenerative disorder caused by the progressive loss of dopaminergic (DAergic) neurons in the substantia nigra and the intraneuronal presence of Lewy bodies (LBs), composed of aggregates of phosphorylated alpha-sy
Externí odkaz:
https://doaj.org/article/129f4b6fd98141868f6eb27c2873fc6b
Akademický článek
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Autor:
Jimenez-Del-Rio, Laura Patricia Perez-Abshana, Miguel Mendivil-Perez, Carlos Velez-Pardo, Marlene
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 13; Pages: 10589
Parkinson’s disease (PD) is a neurodegenerative disorder caused by the progressive loss of dopaminergic (DAergic) neurons in the substantia nigra and the intraneuronal presence of Lewy bodies (LBs), composed of aggregates of phosphorylated alpha-sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::d9f8d5dc2c82e7e7bec90a8af3625ab0
Autor:
Ortega RA; Department of Neurology, Mount Sinai Beth Israel, and Icahn School of Medicine, New York, New York, USA., Bodamer O; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Peake RWA; Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts, USA., Raymond D; Department of Neurology, Mount Sinai Beth Israel, and Icahn School of Medicine, New York, New York, USA., Bressman SB; Department of Neurology, Mount Sinai Beth Israel, and Icahn School of Medicine, New York, New York, USA., Saunders-Pullman R; Department of Neurology, Mount Sinai Beth Israel, and Icahn School of Medicine, New York, New York, USA.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Mar; Vol. 37 (3), pp. 655-656. Date of Electronic Publication: 2022 Feb 01.
Autor:
Aviezer, David1, Brill-Almon, Einat1, Shaaltiel, Yoseph1, Hashmueli, Sharon1, Bartfeld, Daniel1, Mizrachi, Sarah2, Liberman, Yael2, Freeman, Arnold2, Zimran, Ari3, Galun, Eithan2 eithang@hadassah.org.il
Publikováno v:
PLoS ONE. 2009, Vol. 4 Issue 3, p1-6. 6p. 2 Charts, 1 Graph.
Akademický článek
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Autor:
Roberto A. Ortega, Olaf Bodamer, Roy W.A. Peake, Deborah Raymond, Susan B. Bressman, Rachel Saunders‐Pullman
Publikováno v:
Mov Disord
Mutations in GBA1, which encode for the protein glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease and dementia with Lewy bodies. In addition, growing evidence now suggests that the loss of GCase activity is a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6926dcd59eedd239579ec4276a0f8238
https://doi.org/10.1002/mds.28951
https://doi.org/10.1002/mds.28951