Multi-omics analysis of sarcospan overexpression in mdx skeletal muscle reveals compensatory remodeling of cytoskeleton-matrix interactions that promote mechanotransduction pathways.

Autor: McCourt JL; Department of Integrative Biology and Physiology, University of California, Los Angeles, CA, 90095, USA., Stearns-Reider KM; Department of Integrative Biology and Physiology, University of California, Los Angeles, CA, 90095, USA.; Department of Orthopedic Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Mamsa H; Department of Integrative Biology and Physiology, University of California, Los Angeles, CA, 90095, USA., Kannan P; Department of Integrative Biology and Physiology, University of California, Los Angeles, CA, 90095, USA., Afsharinia MH; Department of Integrative Biology and Physiology, University of California, Los Angeles, CA, 90095, USA., Shu C; Department of Integrative Biology and Physiology, University of California, Los Angeles, CA, 90095, USA., Gibbs EM; Department of Integrative Biology and Physiology, University of California, Los Angeles, CA, 90095, USA., Shin KM; Department of Integrative Biology and Physiology, University of California, Los Angeles, CA, 90095, USA., Kurmangaliyev YZ; Department of Biological Chemistry, Howard Hughes Medical Institute, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Schmitt LR; Department of Biochemistry and Molecular Genetics, University of Colorado, Denver, CO, USA., Hansen KC; Department of Biochemistry and Molecular Genetics, University of Colorado, Denver, CO, USA., Crosbie RH; Department of Integrative Biology and Physiology, University of California, Los Angeles, CA, 90095, USA. rcrosbie@physci.ucla.edu.; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA. rcrosbie@physci.ucla.edu.; Molecular Biology Institute, University of California, Los Angeles, CA, USA. rcrosbie@physci.ucla.edu.; Broad Stem Cell Research Center, University of California, Los Angeles, CA, USA. rcrosbie@physci.ucla.edu.

Publikováno v: Skeletal muscle [Skelet Muscle] 2023 Jan 06; Vol. 13 (1), pp. 1. Date of Electronic Publication: 2023 Jan 06.

Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease.

Autor: Macaron G; Mellen Center for Multiple Sclerosis Treatment and Research, Cleveland Clinic, Cleveland, OH, USA; Faculty of Medicine, Université Saint Joseph de Beyrouth, Beirut, Lebanon. Electronic address: gabrielle.macaron@hdf.usj.edu.lb., Khoury J; Neurological Institute, Cleveland Clinic, Cleveland, OH, USA., Hajj-Ali RA; Department of Rheumatic and Immunologic Disease, Cleveland Clinic, Cleveland, OH, USA., Prayson RA; Department of Anatomic Pathology, Cleveland Clinic, Cleveland, OH, USA., Srivastava S; Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA., Ehlers JP; Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA., Mamsa H; Department of Neurology, University of California, Los Angeles, CA, USA., Liszewski MK; Division of Rheumatology, Department of Medicine, Washington University, School of Medicine, Saint Louis, MO, USA., Jen JC; Department of Neurology, University of California, Los Angeles, CA, USA., Bermel RA; Mellen Center for Multiple Sclerosis Treatment and Research, Cleveland Clinic, Cleveland, OH, USA., Ontaneda D; Mellen Center for Multiple Sclerosis Treatment and Research, Cleveland Clinic, Cleveland, OH, USA. Electronic address: ontaned@ccf.org.

Publikováno v: Multiple sclerosis and related disorders [Mult Scler Relat Disord] 2021 Jul; Vol. 52, pp. 103015. Date of Electronic Publication: 2021 May 07.

Ortholog of autism candidate gene RBM27 regulates mitoribosomal assembly factor MALS-1 to protect against mitochondrial dysfunction and axon degeneration during neurodevelopment.

Autor: Chowdhury, Tamjid A.¹ (AUTHOR), Luy, David A.¹ (AUTHOR), Scapellato, Garrett¹ (AUTHOR), Farache, Dorian^2,3 (AUTHOR), Lee, Amy S. Y.^2,3 (AUTHOR), Quinn, Christopher C.¹ (AUTHOR) quinnc@uwm.edu

Publikováno v: PLoS Biology. 10/31/2024, Vol. 22 Issue 10, p1-29. 29p.

How Can Proteomics Help to Elucidate the Pathophysiological Crosstalk in Muscular Dystrophy and Associated Multi-System Dysfunction?

Autor: Dowling, Paul^1,2 (AUTHOR) paul.dowling@mu.ie, Trollet, Capucine³ (AUTHOR) capucine.trollet@upmc.fr, Negroni, Elisa³ (AUTHOR) elisa.negroni@upmc.fr, Swandulla, Dieter⁴ (AUTHOR) swandulla@uni-bonn.de, Ohlendieck, Kay^1,2 (AUTHOR) kay.ohlendieck@mu.ie

Publikováno v: Proteomes. Mar2024, Vol. 12 Issue 1, p4. 41p.

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.

Autor: Ghasemi, Mohammad-Reza^1,2 (AUTHOR), Tehrani Fateh, Sahand³ (AUTHOR), Moeinafshar, Aysan³ (AUTHOR), Sadeghi, Hossein¹ (AUTHOR), Karimzadeh, Parvaneh⁴ (AUTHOR), Mirfakhraie, Reza¹ (AUTHOR), Rezaei, Mitra⁵ (AUTHOR), Hashemi-Gorji, Farzad⁵ (AUTHOR), Rezvani Kashani, Morteza⁴ (AUTHOR), Fazeli Bavandpour, Fatemehsadat² (AUTHOR), Bagheri, Saman^2,6 (AUTHOR), Moghimi, Parinaz^2,6 (AUTHOR), Rostami, Masoumeh² (AUTHOR), Madannejad, Rasoul² (AUTHOR), Roudgari, Hassan^2,5 (AUTHOR), Miryounesi, Mohammad^1,2,5 (AUTHOR) miryounesi@gmail.com

Publikováno v: BMC Medical Genomics. 2/13/2024, Vol. 17 Issue 1, p1-28. 28p.