Multiple Transcriptomic Analyses Explore Potential Synaptic Biomarker Rabphilin-3A for Alzheimer's Disease.

Autor: Nguyen DPQ; Ph.D. Program in Medical Biotechnology, College of Medical Science and Technology, Taipei Medical University, No. 301, Yuantong Rd., Zhonghe Dist., New Taipei City, 235, Taiwan.; Institute of Biomedicine, Hue University of Medicine and Pharmacy, Hue University, Hue, Vietnam., Pham S; BioTuring Inc., San Diego, CA, 92121, USA., Jallow AW; Ph.D. Program in Medical Biotechnology, College of Medical Science and Technology, Taipei Medical University, No. 301, Yuantong Rd., Zhonghe Dist., New Taipei City, 235, Taiwan., Ho NT; IVFMD, My Duc Hospital, Ho Chi Minh City, 700000, Vietnam., Le B; Faculty of Pharmacy, Ton Duc Thang University, Ho Chi Minh City, Vietnam., Quang HT; School of Medical Laboratory Science and Biotechnology, College of Medical Science and Technology, Taipei Medical University, New Taipei City, 235, Taiwan., Lin YF; Department of Laboratory Medicine, Taipei Medical University-Shuang Ho Hospital, New Taipei City, 235, Taiwan., Lin YF; Ph.D. Program in Medical Biotechnology, College of Medical Science and Technology, Taipei Medical University, No. 301, Yuantong Rd., Zhonghe Dist., New Taipei City, 235, Taiwan. yflin@tmu.edu.tw.; School of Medical Laboratory Science and Biotechnology, College of Medical Science and Technology, Taipei Medical University, New Taipei City, 235, Taiwan. yflin@tmu.edu.tw.; Department of Laboratory Medicine, Taipei Medical University Hospital, Taipei City, 110, Taiwan. yflin@tmu.edu.tw.

Publikováno v: Scientific reports [Sci Rep] 2024 Aug 12; Vol. 14 (1), pp. 18717. Date of Electronic Publication: 2024 Aug 12.

Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.

Autor: Pavinato L; Department of Medical Sciences, University of Turin, Turin, Italy; Institute of Oncology Research (IOR), Bellinzona, Switzerland; Università della Svizzera Italiana, Lugano, Switzerland., Stanic J; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy., Barzasi M; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy., Gurgone A; Department of Neuroscience, University of Turin, Turin, Italy., Chiantia G; Department of Neuroscience, University of Turin, Turin, Italy., Cipriani V; William Harvey Research Institute, Clinical Pharmacology Precision Medicine, Queen Mary University of London, Charterhouse Square, United Kingdom., Eberini I; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy., Palazzolo L; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy., Di Luca M; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy., Costa A; Department of Biosciences, University of the Studies of Milan, Milan, Italy; Institute of Biophysics, Consiglio Nazionale delle Ricerche (CNR), Milan, Italy., Marcantoni A; Department of Drug Science and Technology, University of Turin, Turin, Italy., Biamino E; Department of Pediatrics, Regina Margherita Children Hospital, Turin, Italy., Spada M; Department of Pediatrics, Regina Margherita Children Hospital, Turin, Italy., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Vestito L; William Harvey Research Institute, Clinical Pharmacology Precision Medicine, Queen Mary University of London, Charterhouse Square, United Kingdom., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom; Chalfont Centre for Epilepsy Bucks, Chalfont St Peter, United Kingdom., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Chand P; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Kaiyrzhanov R; University College London, UCL Queen Square Institute of Neurology, London, United Kingdom., Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy., Cardaropoli S; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., De Rubeis S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY., Smedley D; William Harvey Research Institute, Clinical Pharmacology Precision Medicine, Queen Mary University of London, Charterhouse Square, United Kingdom., Ferrero GB; Department of Clinical and Biological Sciences, University of Turin, Orbassano, TO, Italy., Giustetto M; Department of Neuroscience, University of Turin, Turin, Italy., Gardoni F; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy., Brusco A; Department of Medical Sciences, University of Turin, Turin, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy. Electronic address: alfredo.brusco@unito.it.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100922. Date of Electronic Publication: 2023 Jul 01.

Rabphilin-3A undergoes phase separation to regulate GluN2A mobility and surface clustering.

Autor: Yang L; School of Basic Medical Sciences, Beijing Key Laboratory of Neural Regeneration and Repair, Advanced Innovation Center for Human Brain Protection, Capital Medical University, Beijing, 100069, China., Wei M; School of Basic Medical Sciences, Beijing Key Laboratory of Neural Regeneration and Repair, Advanced Innovation Center for Human Brain Protection, Capital Medical University, Beijing, 100069, China., Wang Y; School of Life Sciences, Tsinghua University, Beijing, 100084, China., Zhang J; School of Basic Medical Sciences, Beijing Key Laboratory of Neural Regeneration and Repair, Advanced Innovation Center for Human Brain Protection, Capital Medical University, Beijing, 100069, China., Liu S; School of Basic Medical Sciences, Beijing Key Laboratory of Neural Regeneration and Repair, Advanced Innovation Center for Human Brain Protection, Capital Medical University, Beijing, 100069, China., Liu M; Peking-Tsinghua Center for Life Sciences, Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, 100871, China., Wang S; Peking-Tsinghua Center for Life Sciences, Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, 100871, China., Li K; School of Basic Medical Sciences, Beijing Key Laboratory of Neural Regeneration and Repair, Advanced Innovation Center for Human Brain Protection, Capital Medical University, Beijing, 100069, China., Dong Z; School of Basic Medical Sciences, Beijing Key Laboratory of Neural Regeneration and Repair, Advanced Innovation Center for Human Brain Protection, Capital Medical University, Beijing, 100069, China., Zhang C; School of Basic Medical Sciences, Beijing Key Laboratory of Neural Regeneration and Repair, Advanced Innovation Center for Human Brain Protection, Capital Medical University, Beijing, 100069, China. czhang@188.com.; Chinese Institute for Brain Research, Beijing, 102206, China. czhang@188.com.; State Key Laboratory of Translational Medicine and Innovative Drug Development, Nanjing, 210000, Jiangsu, China. czhang@188.com.; Beijing Laboratory of Oral Health, Capital Medical University, Beijing, 100050, China. czhang@188.com.

Publikováno v: Nature communications [Nat Commun] 2023 Jan 24; Vol. 14 (1), pp. 379. Date of Electronic Publication: 2023 Jan 24.

Rabphilin-3A Drives Structural Modifications of Dendritic Spines Induced by Long-Term Potentiation.

Autor: Franchini L; Department of Pharmacological and Biomolecular Sciences, University of Milan, 20133 Milan, Italy., Stanic J; Department of Pharmacological and Biomolecular Sciences, University of Milan, 20133 Milan, Italy., Barzasi M; Department of Pharmacological and Biomolecular Sciences, University of Milan, 20133 Milan, Italy., Zianni E; Department of Pharmacological and Biomolecular Sciences, University of Milan, 20133 Milan, Italy., Mauceri D; Department of Neurobiology, Interdisciplinary Center for Neurosciences (IZN), Heidelberg University, INF 366, 69120 Heidelberg, Germany., Diluca M; Department of Pharmacological and Biomolecular Sciences, University of Milan, 20133 Milan, Italy., Gardoni F; Department of Pharmacological and Biomolecular Sciences, University of Milan, 20133 Milan, Italy.

Publikováno v: Cells [Cells] 2022 May 11; Vol. 11 (10). Date of Electronic Publication: 2022 May 11.

Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.

Autor: Avagliano Trezza, Rossella^1,2, Punt, A. Mattijs², Mientjes, Edwin², van den Berg, Marlene¹, Zampeta, F. Isabella², de Graaf, Ilona J.^1,2, van der Weegen, Yana¹, Demmers, Jeroen A. A.³, Elgersma, Ype^2,4 y.elgersma@erasmusmc.nl, Distel, Ben^1,2,4 b.distel@amsterdamumc.nl

Publikováno v: Scientific Reports. 2/4/2021, Vol. 11 Issue 1, p1-14. 14p.