Cargando…

The Proteomic Profile of Hereditary Inclusion Body Myopathy

Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a key enzyme in the biosynthesis of sialic acid, its primary function in HIBM remains unknown. The goal of this study was to unravel new clues on...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sela, Ilan, Milman Krentsis, Irit, Shlomai, Zipora, Sadeh, Menachem, Dabby, Ron, Argov, Zohar, Ben-Bassat, Hannah, Mitrani-Rosenbaum, Stella
Formato:	Texto
Lenguaje:	English
Publicado:	Public Library of Science 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3031555/ https://www.ncbi.nlm.nih.gov/pubmed/21305017 http://dx.doi.org/10.1371/journal.pone.0016334

Ejemplares similares

GNE Myopathy: Two Clusters with History and Several Founder Mutations
por: Argov, Zohar, et al.
Publicado: (2015)

GNE Is Involved in the Early Development of Skeletal and Cardiac Muscle
por: Milman Krentsis, Irit, et al.
Publicado: (2011)

Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy
por: Mitrani-Rosenbaum, Stella, et al.
Publicado: (2022)

Electrical stimulation of the posterior tibial nerve reduces neuropathic pain in patients with polyneuropathy
por: Dabby, Ron, et al.
Publicado: (2017)

Upregulation of Hallmark Muscle Genes Protects Gne(M743T/M743T) Mutated Knock-In Mice From Kidney and Muscle Phenotype
por: Benyamini, Hadar, et al.
Publicado: (2020)

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture
por: Feinstein-Linial, Miora, et al.
Publicado: (2016)

myopathy: a personal trip from bedside observation to therapeutic trials
por: Argov, Zohar
Publicado: (2014)

Hereditary Inclusion Body Myopathy (HIBM2)
por: Jay, Chris M., et al.
Publicado: (2009)

Pathological Laughter as a Symptom of Midbrain Infarction
por: Dabby, Ron, et al.
Publicado: (2004)

GNE genotype explains 20% of phenotypic variability in GNE myopathy
por: Pogoryelova, Oksana, et al.
Publicado: (2019)

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study
por: Sparks, Susan, et al.
Publicado: (2007)

Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle
por: Broccolini, A., et al.
Publicado: (2011)

Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature
por: Das, Biplab, et al.
Publicado: (2016)

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy
por: Behnam, Mahdiyeh, et al.
Publicado: (2014)

Eosinophils in hereditary and inflammatory myopathies
por: SCHRöDER, THOMAS, et al.
Publicado: (2013)

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion
por: Pogoryelova, Oksana, et al.
Publicado: (2018)

Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2)
por: Jay, Chris, et al.
Publicado: (2008)

Atrial Myopathy Underlying Atrial Fibrillation
por: Rivner, Harold, et al.
Publicado: (2020)

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE
por: Boyden, Steven E, et al.
Publicado: (2011)

Safety and in vivo Expression of a GNE-Transgene: A Novel Treatment Approach for Hereditary Inclusion Body Myopathy-2
por: Phadke, Anagha P., et al.
Publicado: (2009)

Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis — A cross sectional survey()
por: Danckworth, F., et al.
Publicado: (2014)

Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis
por: Lu, Yan, et al.
Publicado: (2018)

Corrigendum: Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis
por: Lu, Yan, et al.
Publicado: (2018)

Regulation of UMSBP activities through redox-sensitive protein domains
por: Sela, Dotan, et al.
Publicado: (2009)

Towards Central Nervous System Involvement in Adults with Hereditary Myopathies
por: Reimann, Jens, et al.
Publicado: (2020)

Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy
por: Argov, Zohar, et al.
Publicado: (2017)

Opportunism or aquatic specialization? Evidence of freshwater fish exploitation at Ohalo II- A waterlogged Upper Paleolithic site
por: Zohar, Irit, et al.
Publicado: (2018)

Myopathy with oval inclusions in a domestic shorthair cat
por: Gougeon, Eliot, et al.
Publicado: (2022)

Lung Injury Repair by Transplantation of Adult Lung Cells Following Preconditioning of Recipient Mice
por: Milman Krentsis, Irit, et al.
Publicado: (2017)

A Window Into the Myofibrillar Myopathy Proteome
por: Liewluck, Teerin
Publicado: (2021)

Hypothesis and theory: mechanical instabilities and non-uniformities in hereditary sarcomere myopathies
por: Månsson, Alf
Publicado: (2014)

COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy
por: Gandolfi, Barbara, et al.
Publicado: (2015)

Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study
por: Argov, Zohar, et al.
Publicado: (2016)

Insights into Muscle Degeneration from Heritable Inclusion Body Myopathies
por: Krause, Sabine
Publicado: (2015)

Laing distal myopathy pathologically resembling inclusion body myositis
por: Roda, Ricardo H, et al.
Publicado: (2014)

Correction of T-Cell Repertoire and Autoimmune Diabetes in NOD Mice by Non-myeloablative T-Cell Depleted Allogeneic HSCT
por: Sidlik Muskatel, Rakefet, et al.
Publicado: (2023)

Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study
por: Steele, Hannah E., et al.
Publicado: (2016)

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
por: Olivé, Montse, et al.
Publicado: (2019)

Association Between Treatment-Resistant Sarcoid Myopathy and Inclusion Body Myositis
por: Marotta, Dario A, et al.
Publicado: (2020)

Neuropathy/intranuclear inclusion bodies in oculopharyngodistal myopathy: A case report
por: Matsubara, Tomoyasu, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_qvgosukka9hju6j81l07nitgmr