Unraveling the Membrane Topology of TMEM151A: A Step Towards Understanding its Cellular Role.

Autor: Morinelli L; University of Genova, Department of Experimental Medicine, Genova, Italy; Istituto Italiano di Tecnologia, Center for Synaptic Neuroscience and Technology, Genova, Italy., Corradi B; University of Genova, Department of Experimental Medicine, Genova, Italy; Istituto Italiano di Tecnologia, Center for Synaptic Neuroscience and Technology, Genova, Italy., Arnaldi P; University of Genova, Department of Experimental Medicine, Genova, Italy., Cortese K; University of Genova, Department of Experimental Medicine, Genova, Italy; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Muià M; University of Genova, Department of Experimental Medicine, Genova, Italy., Zara F; University of Genova, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Genova, Italy; IRCCS Istituto Giannina Gaslini, Unit of Medical Genetics, Genova, Italy., Maragliano L; Istituto Italiano di Tecnologia, Center for Synaptic Neuroscience and Technology, Genova, Italy; Polytechnic University of Marche, Department of Life and Environmental Sciences, Ancona, Italy., Sterlini B; University of Genova, Department of Experimental Medicine, Genova, Italy; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Corradi A; University of Genova, Department of Experimental Medicine, Genova, Italy; IRCCS Ospedale Policlinico San Martino, Genova, Italy. Electronic address: anna.corradi@unige.it.

Publikováno v: Journal of molecular biology [J Mol Biol] 2024 Oct 23; Vol. 436 (23), pp. 168834. Date of Electronic Publication: 2024 Oct 23.

Nanoactuator for Neuronal Optoporation.

Autor: Pfeffer ME; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Largo Rosanna Benzi 10, 16132 Genova, Italy.; Department of Experimental Medicine, University of Genova, Viale Benedetto XV 3, 16132 Genova, Italy., DiFrancesco ML; IRCCS Ospedale Policlinico San Martino, Largo Rosanna Benzi 10, 16132 Genova, Italy., Marchesi A; WPI Nano Life Science Institute, Kanazawa University, Kakuma-machi, Kanazawa 920-1192, Japan.; Department of Experimental and Clinical Medicine, Università Politecnica delle Marche, Via Tronto 10/a, 60126 Torrette di Ancona, Italy., Galluzzi F; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Largo Rosanna Benzi 10, 16132 Genova, Italy.; The Open University Affiliated Research Centre at Istituto Italiano di Tecnologia (ARC@IIT), Via Morego 30, 16163 Genova, Italy., Moschetta M; Center for Nano Science and Technology, Istituto Italiano di Tecnologia, Via Raffaele Rubattino 81, 20134 Milano, Italy., Rossini A; Center for Nano Science and Technology, Istituto Italiano di Tecnologia, Via Raffaele Rubattino 81, 20134 Milano, Italy., Francia S; IRCCS Ospedale Policlinico San Martino, Largo Rosanna Benzi 10, 16132 Genova, Italy., Franz CM; WPI Nano Life Science Institute, Kanazawa University, Kakuma-machi, Kanazawa 920-1192, Japan., Fok Y; Aix-Marseille University, INSERM, DyNaMo, Turing Centre for Living Systems, 163 Avenue de Luminy, 13288 Marseille Cedex 09, France., Valotteau C; Aix-Marseille University, INSERM, DyNaMo, Turing Centre for Living Systems, 163 Avenue de Luminy, 13288 Marseille Cedex 09, France., Paternò GM; Center for Nano Science and Technology, Istituto Italiano di Tecnologia, Via Raffaele Rubattino 81, 20134 Milano, Italy.; Department of Physics, Politecnico di Milano, Piazza Leonardo Da Vinci, 32, 20133 Milan, Italy., Redondo Morata L; Aix-Marseille University, INSERM, DyNaMo, Turing Centre for Living Systems, 163 Avenue de Luminy, 13288 Marseille Cedex 09, France., Vacca F; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Largo Rosanna Benzi 10, 16132 Genova, Italy.; IRCCS Ospedale Policlinico San Martino, Largo Rosanna Benzi 10, 16132 Genova, Italy., Mattiello S; Department of Material Science, Bicocca University, Via Roberto Cozzi 55, 20126 Milano, Italy., Magni A; Center for Nano Science and Technology, Istituto Italiano di Tecnologia, Via Raffaele Rubattino 81, 20134 Milano, Italy.; Department of Physics, Politecnico di Milano, Piazza Leonardo Da Vinci, 32, 20133 Milan, Italy., Maragliano L; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Largo Rosanna Benzi 10, 16132 Genova, Italy.; Department of Life and Environmental Sciences, Università Politecnica delle Marche, Via Brecce Bianche, 60131 Ancona, Italy., Beverina L; Department of Material Science, Bicocca University, Via Roberto Cozzi 55, 20126 Milano, Italy., Mattioli G; Istituto di Struttura della Materia, Consiglio Nazionale delle Ricerche (CNR-ISM), Via Salaria km 29.300, 00015 Monterotondo (RM), Italy., Lanzani G; Center for Nano Science and Technology, Istituto Italiano di Tecnologia, Via Raffaele Rubattino 81, 20134 Milano, Italy.; Department of Physics, Politecnico di Milano, Piazza Leonardo Da Vinci, 32, 20133 Milan, Italy., Baldelli P; Department of Experimental Medicine, University of Genova, Viale Benedetto XV 3, 16132 Genova, Italy.; IRCCS Ospedale Policlinico San Martino, Largo Rosanna Benzi 10, 16132 Genova, Italy., Colombo E; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Largo Rosanna Benzi 10, 16132 Genova, Italy.; IRCCS Ospedale Policlinico San Martino, Largo Rosanna Benzi 10, 16132 Genova, Italy., Benfenati F; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Largo Rosanna Benzi 10, 16132 Genova, Italy.; IRCCS Ospedale Policlinico San Martino, Largo Rosanna Benzi 10, 16132 Genova, Italy.

Publikováno v: ACS nano [ACS Nano] 2024 May 14; Vol. 18 (19), pp. 12427-12452. Date of Electronic Publication: 2024 Apr 30.

Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.

Autor: Romano F; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Amadori E; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Child Neuropsichiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Madia F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Rizzo R; Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Barone R; Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Corradi B; Department of Experimental Medicine, University of Genova, Genova, Italy.; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genova, Italy., Maragliano L; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genova, Italy.; Department of Life and Environmental Sciences, Polytechnic University of Marche, Ancona, Italy., Shams Nosrati MS; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Falace A; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS, Genoa, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Publikováno v: Frontiers in pediatrics [Front Pediatr] 2023 Dec 21; Vol. 11, pp. 1326552. Date of Electronic Publication: 2023 Dec 21 (Print Publication: 2023).

Phenotypic and genetic spectrum of ATP6V1A encephalopathy:a disorder of lysosomal homeostasis

Autor: Guerrini, R. (Renzo), Mei, D. (Davide), Kerti-Szigeti, K. (Katalin), Pepe, S. (Sara), Koenig, M. K. (Mary Kay), Von Allmen, G. (Gretchen), Cho, M. T. (Megan T), McDonald, K. (Kimberly), Baker, J. (Janice), Bhambhani, V. (Vikas), Powis, Z. (Zöe), Rodan, L. (Lance), Nabbout, R. (Rima), Barcia, G. (Giulia), Rosenfeld, J. A. (Jill A), Bacino, C. A. (Carlos A), Mignot, C. (Cyril), Power, L. H. (Lillian H), Harris, C. J. (Catharine J), Marjanovic, D. (Dragan), Møller, R. S. (Rikke S), Hammer, T. B. (Trine B), T. D. (The DDD Study), Keski Filppula, R. (Riikka), Vieira, P. (Päivi), Hildebrandt, C. (Clara), Sacharow, S. (Stephanie), U. D. (Undiagnosed Diseases Network), Maragliano, L. (Luca), Benfenati, F. (Fabio), Lachlan, K. (Katherine), Benneche, A. (Andreas), Petit, F. (Florence), de Sainte Agathe, J. M. (Jean Madeleine), Hallinan, B. (Barbara), Si, Y. (Yue), Wentzensen, I. M. (Ingrid M), Zou, F. (Fanggeng), Narayanan, V. (Vinodh), Matsumoto, N. (Naomichi), Boncristiano, A. (Alessandra), la Marca, G. (Giancarlo), Kato, M. (Mitsuhiro), Anderson, K. (Kristin), Barba, C. (Carmen), Sturiale, L. (Luisa), Garozzo, D. (Domenico), Bei, R. (Roberto), A. c. (ATP6V1A collaborators), Masuelli, L. (Laura), Conti, V. (Valerio), Novarino, G. (Gaia), Fassio, A. (Anna)

Vacuolar-type H⁺-ATPase (V-ATPase) is a multimeric complex present in a variety of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in pH homeostasis and intracellular signalling pathways. In humans, 22 autosomal ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2423::3d87197087e6ddb6b11e6edcbbf5ae62
http://urn.fi/urn:nbn:fi-fe2023022728799

Thermodynamics and kinetics of ion translocation in the human wild-type and E-1_A α7 nicotinic receptor

Autor: Cottone G., Chiodo L., Maragliano L.

We use an all-atom model of the human nicotinic acetylcholine receptor α7 in a conductive conformation, to provide the first available mapping of the potential of mean force for the ion translocation across the channel. The modeling is based on MD s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3658::bfb31047b117a9644fd42a0d15606e8f
http://hdl.handle.net/10447/522094