The RAB3-RIM Pathway Is Essential for the Release of Neuromodulators.

Autor: Persoon CM; Department of Clinical Genetics, UMC Amsterdam, the Netherlands., Hoogstraaten RI; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit (VU) Amsterdam, de Boelelaan 1087, 1081 HV Amsterdam, the Netherlands., Nassal JP; Department of Clinical Genetics, UMC Amsterdam, the Netherlands., van Weering JRT; Department of Clinical Genetics, UMC Amsterdam, the Netherlands., Kaeser PS; Department of Neurobiology, Harvard Medical School, Boston, USA., Toonen RF; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit (VU) Amsterdam, de Boelelaan 1087, 1081 HV Amsterdam, the Netherlands. Electronic address: ruud.toonen@cncr.vu.nl., Verhage M; Department of Clinical Genetics, UMC Amsterdam, the Netherlands; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit (VU) Amsterdam, de Boelelaan 1087, 1081 HV Amsterdam, the Netherlands. Electronic address: matthijs@cncr.vu.nl.

Publikováno v: Neuron [Neuron] 2019 Dec 18; Vol. 104 (6), pp. 1065-1080.e12. Date of Electronic Publication: 2019 Oct 31.

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.

Autor: Hamilton EMC; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Bertini E; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Kalaydjieva L; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Morar B; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Dojčáková D; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Liu J; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Vanderver A; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Curiel J; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Persoon CM; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Diodato D; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Pinelli L; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., van der Meij NL; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Plecko B; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Blaser S; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Wolf NI; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Waisfisz Q; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Abbink TEM; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., van der Knaap MS; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada. ms.vanderknaap@vumc.nl.

Publikováno v: Neurology [Neurology] 2017 Oct 24; Vol. 89 (17), pp. 1821-1828. Date of Electronic Publication: 2017 Sep 20.

CAPS-1 promotes fusion competence of stationary dense-core vesicles in presynaptic terminals of mammalian neurons.

Autor: Farina M; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University Amsterdam, Amsterdam, Netherlands., van de Bospoort R; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University Amsterdam, Amsterdam, Netherlands., He E; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University Amsterdam, Amsterdam, Netherlands., Persoon CM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, Netherlands., van Weering JR; Department of Clinical Genetics, VU University Medical Center, Amsterdam, Netherlands., Broeke JH; Department of Clinical Genetics, VU University Medical Center, Amsterdam, Netherlands., Verhage M; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University Amsterdam, Amsterdam, Netherlands., Toonen RF; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University Amsterdam, Amsterdam, Netherlands.

Publikováno v: ELife [Elife] 2015 Feb 26; Vol. 4. Date of Electronic Publication: 2015 Feb 26.