Zobrazeno 1 - 10
of 12 108
pro vyhledávání: '"niemann–pick disease type c"'
Autor:
Lu M; Department of Chemical Engineering and Biotechnology, University of Cambridge, Philippa Fawcett Drive, Cambridge, CB3 0AS, UK., Hui E; Department of Chemical Engineering and Biotechnology, University of Cambridge, Philippa Fawcett Drive, Cambridge, CB3 0AS, UK., Brockhoff M; Department of Chemical Engineering and Biotechnology, University of Cambridge, Philippa Fawcett Drive, Cambridge, CB3 0AS, UK., Träuble J; Department of Chemical Engineering and Biotechnology, University of Cambridge, Philippa Fawcett Drive, Cambridge, CB3 0AS, UK., Fernandez-Villegas A; Department of Chemical Engineering and Biotechnology, University of Cambridge, Philippa Fawcett Drive, Cambridge, CB3 0AS, UK., Burton OJ; Department of Engineering, University of Cambridge, 9 JJ Thomson Ave, Cambridge, CB3 0FA, UK., Lamb J; Department of Chemical Engineering and Biotechnology, University of Cambridge, Philippa Fawcett Drive, Cambridge, CB3 0AS, UK., Ward E; Department of Chemical Engineering and Biotechnology, University of Cambridge, Philippa Fawcett Drive, Cambridge, CB3 0AS, UK., Woodhams PJ; Department of Chemical Engineering and Biotechnology, University of Cambridge, Philippa Fawcett Drive, Cambridge, CB3 0AS, UK., Tadbier W; Department of Engineering, University of Cambridge, 9 JJ Thomson Ave, Cambridge, CB3 0FA, UK., Läubli NF; Department of Chemical Engineering and Biotechnology, University of Cambridge, Philippa Fawcett Drive, Cambridge, CB3 0AS, UK., Hofmann S; Department of Engineering, University of Cambridge, 9 JJ Thomson Ave, Cambridge, CB3 0FA, UK., Kaminski CF; Department of Chemical Engineering and Biotechnology, University of Cambridge, Philippa Fawcett Drive, Cambridge, CB3 0AS, UK., Lombardo A; University College London, 17-19 Gordon Street, London, WC1H 0AH, UK., Kaminski Schierle GS; Department of Chemical Engineering and Biotechnology, University of Cambridge, Philippa Fawcett Drive, Cambridge, CB3 0AS, UK.
Publikováno v:
Advanced science (Weinheim, Baden-Wurttemberg, Germany) [Adv Sci (Weinh)] 2024 Nov; Vol. 11 (44), pp. e2402967. Date of Electronic Publication: 2024 Sep 28.
Autor:
Qiao L; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, China., Han X; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, China; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany., Ding R; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, China., Shang X; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, China., Xiao L; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, China., Gao G; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, China., Zhang C; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, China., Kang J; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, China., Su X; The Second Affiliated Hospital of Xinxiang Medical University, Xinxiang, China., Liu Y; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, China., Luo J; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany., Yan X; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany. Electronic address: xin.yan@med.uni-rostock.de., Lin J; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, China; Henan Joint International Research Laboratory of Stem Cell Medicine, School of Medical Engineering, Xinxiang Medical University, Xinxiang, China. Electronic address: linjt@xxmu.edu.cn.
Publikováno v:
Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2024 Dec; Vol. 1870 (8), pp. 167478. Date of Electronic Publication: 2024 Aug 22.
Autor:
Sanchez KL; Department of Pathology and Human Anatomy, School of Medicine, Loma Linda University, Loma Linda, CA 92354, USA., Shin SD; Department of Pathology and Human Anatomy, School of Medicine, Loma Linda University, Loma Linda, CA 92354, USA., Rajagopal NP; Department of Pathology and Human Anatomy, School of Medicine, Loma Linda University, Loma Linda, CA 92354, USA., White JB; Department of Pathology and Human Anatomy, School of Medicine, Loma Linda University, Loma Linda, CA 92354, USA., Currais A; The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA., Soriano-Castell D; The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA., Maher P; The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA., Soriano S; Department of Pathology and Human Anatomy, School of Medicine, Loma Linda University, Loma Linda, CA 92354, USA.
Publikováno v:
Genes [Genes (Basel)] 2024 Aug 13; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 13.
Autor:
Yamada Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan; Department of Pharmacy, University of Miyazaki Hospital, 5200 Kihara, Kiyotake-cho, Miyazaki 889-1692, Japan., Ishitsuka Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan. Electronic address: y-zuka@gpo.kumamoto-u.ac.jp., Fukaura-Nishizawa M; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Kawata T; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Ishii A; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Shirakawa A; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Sakai T; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Tanaka M; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Kondo Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Takeo T; Division of Reproductive Engineering, Center for Animal Resources and Development (CARD), Kumamoto University, 2-2-1 Honjo, Chuo-ku, Kumamoto 860-0811, Japan., Nakagata N; Division of Reproductive Biotechnology and Innovation, Center for Animal Resources and Development (CARD), Institute of Resource Development and Analysis, Kumamoto University, 2-2-1 Honjo, Chuo-ku, Kumamoto 860-0811, Japan., Motoyama K; Department of Physical Pharmaceutics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Higashi T; Department of Physical Pharmaceutics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Arima H; Laboratory of Evidence-Based Pharmacotherapy, Daiichi University of Pharmacy, 22-1 Tamagawa-machi, Minami-ku, Fukuoka 815-8511, Japan., Seki T; Department of Pharmacology, Faculty of Pharmaceutical Sciences, Himeji Dokkyo University, 7-2-1 Kami-ohno, Himeji, Hyogo 670-8524, Japan., Kurauchi Y; Department of Chemico-Pharmacological Sciences, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Katsuki H; Department of Chemico-Pharmacological Sciences, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Higaki K; Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, 86 Nishi-cho, Yonago 683-8503, Japan., Ikeda R; Department of Pharmacy, University of Miyazaki Hospital, 5200 Kihara, Kiyotake-cho, Miyazaki 889-1692, Japan., Matsuo M; Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1, Nabeshima, Saga 849-8501, Japan., Era T; Department of Cell Modulation, Institute of Molecular Embryology and Genetics, Kumamoto University, 2-2-1 Honjo, Chuo-ku, Kumamoto 860-0811, Japan., Irie T; Department of Pharmaceutical Packaging Technology, Faculty of Life Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan. Electronic address: tirie@gpo.kumamoto-u.ac.jp.
Publikováno v:
Life sciences [Life Sci] 2024 Aug 01; Vol. 350, pp. 122776. Date of Electronic Publication: 2024 Jun 07.
Autor:
Stern S; Office of Clinical Pharmacology, Office of Translational Science, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, Maryland, 20993, USA. Sydney.Stern@fda.hhs.gov., Crisamore K; Office of Clinical Pharmacology, Office of Translational Science, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, Maryland, 20993, USA., Schuck R; Office of Clinical Pharmacology, Office of Translational Science, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, Maryland, 20993, USA., Pacanowski M; Office of Clinical Pharmacology, Office of Translational Science, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, Maryland, 20993, USA.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jul 26; Vol. 19 (1), pp. 280. Date of Electronic Publication: 2024 Jul 26.
Autor:
Kuroshima S; Division of Reproductive Engineering, Center for Animal Resources and Development, Kumamoto University, Japan.; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Japan., Nakao S; Division of Reproductive Engineering, Center for Animal Resources and Development, Kumamoto University, Japan., Horikoshi Y; Division of Reproductive Engineering, Center for Animal Resources and Development, Kumamoto University, Japan., Ito K; Division of Reproductive Engineering, Center for Animal Resources and Development, Kumamoto University, Japan., Ishii A; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Japan., Shirakawa A; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Japan., Kondo Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Japan., Irie T; Department of Pharmaceutical Packaging Technology, Faculty of Life Sciences, Kumamoto University, Japan., Ishitsuka Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Japan., Nakagata N; Division of Reproductive Biotechnology and Innovation, Center for Animal Resources and Development, Kumamoto University, Japan., Takeo T; Division of Reproductive Engineering, Center for Animal Resources and Development, Kumamoto University, Japan.
Publikováno v:
Laboratory animals [Lab Anim] 2024 Aug; Vol. 58 (4), pp. 313-323. Date of Electronic Publication: 2024 Aug 05.
Autor:
Neissi, Mostafa1,2,3 iammostafaneissi@gmail.com, Al-Badran, Adnan Issa4, Mohammadi-Asl, Misagh3, Al-Badran, Raed Abdulelah5 raedalbadran98@gmail.com, Sheikh-Hosseini, Motahareh3,6, Roghani, Mojdeh3, Mohammadi-Asl, Javad3,7
Publikováno v:
Journal of Rare Diseases. 7/8/2024, Vol. 3 Issue 1, p1-9. 9p.
Autor:
Matsuo M; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan. Electronic address: matsuo@cc.saga-u.ac.jp., Sakakibara T; Department of Pediatrics, Nara Medical University, Japan., Sakiyama Y; Department of Neurology, Jichi Medical University, Saitama Medical Center, Japan., So T; Division of Medical Genetics, National Center for Child Health and Development, Japan., Kosuga M; Division of Medical Genetics, National Center for Child Health and Development, Japan., Kakiuchi T; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan., Ichinose F; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan., Nakamura T; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan., Ishitsuka Y; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan., Irie T; Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan; Department of Pharmaceutical Packaging Technology, Faculty of Life Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto 862-0973, Japan.
Publikováno v:
Brain & development [Brain Dev] 2024 May; Vol. 46 (5), pp. 207-212. Date of Electronic Publication: 2024 Mar 06.
Autor:
Mostafa Neissi, Adnan Issa Al-Badran, Misagh Mohammadi-Asl, Raed Abdulelah Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, Javad Mohammadi-Asl
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-9 (2024)
Abstract Background Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in the NPC1 or NPC2 genes. This autosomal recessive lipid storage disorder unfolds with
Externí odkaz:
https://doaj.org/article/6b7989370270443b8948f18fe9fb778c
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Niemann-Pick disease type C (NPC) is an autosomal recessive, progressive disorder resulting from variants in NPC1 or NPC2 that leads to the accumulation of cholesterol and other lipids in late endosomes and lysosomes. The clinical manifestat
Externí odkaz:
https://doaj.org/article/54c24adfdb8243819932abea70803bed