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Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.

Autor: Jurgens JA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Matos Ruiz PM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., King J; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Foster EE; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Berube L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Chan WM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Barry BJ; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Jeong R; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Bioinformatics and Integrative Genomics Graduate Program, Harvard University, Cambridge, MA 02138, USA., Rothman E; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Whitman MC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., MacKinnon S; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Rivera-Quiles C; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Pratt BM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Easterbrooks T; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Mensching FM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Di Gioia SA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Regeneron Pharmaceuticals, Tarrytown, NY, USA., Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., de Berardinis T; Department of Ophthalmologic Sciences, Faculty of Medicine and Surgery, University 'Federico II', Naples, Italy., Magli A; Department of Ophthalmologic Sciences, Faculty of Medicine and Surgery, University 'Federico II', Naples, Italy., Koc F; Department of Ophthalmology, Faculty of Medicine, Izmir Katip Celebi University, Izmir, Turkey., Asakawa K; Neurobiology and Pathology Laboratory, National Institute of Genetics, Mishima, Shizuoka, Japan., Kawakami K; Laboratory of Molecular and Developmental Biology, National Institute of Genetics; Department of Genetics, Graduate University for Advanced Studies (SOKENDAI)., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Robson CD; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA, USA.; Department of Radiology, Harvard Medical School, Boston, MA, USA., Bulyk ML; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Bioinformatics and Integrative Genomics Graduate Program, Harvard University, Cambridge, MA 02138, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Engle EC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Sep 15. Date of Electronic Publication: 2024 Sep 15.

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Lipidomics study of plasma from patients suggest that ALS and PLS are part of a continuum of motor neuron disorders

Autor: Estela Area-Gomez, D. Larrea, T. Yun, Y. Xu, J. Hupf, F. Zandkarimi, R. B. Chan, H. Mitsumoto

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)

Abstract Motor neuron disorders (MND) include a group of pathologies that affect upper and/or lower motor neurons. Among them, amyotrophic lateral sclerosis (ALS) is characterized by progressive muscle weakness, with fatal outcomes only in a few year

Externí odkaz: https://doaj.org/article/d9ac3cd69e5d4df1afc469dd47aa55ca

Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers

Autor: Elisabetta Zucchi, Valentina Bonetto, Gianni Sorarù, Ilaria Martinelli, Piero Parchi, Rocco Liguori, Jessica Mandrioli

Publikováno v: Molecular Neurodegeneration, Vol 15, Iss 1, Pp 1-20 (2020)

Abstract Motor neuron diseases (MNDs) are etiologically and biologically heterogeneous diseases. The pathobiology of motor neuron degeneration is still largely unknown, and no effective therapy is available. Heterogeneity and lack of specific disease

Externí odkaz: https://doaj.org/article/fb5e2c193b624951884cbdee49f191e1