Cargando…

A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder

BACKGROUND: To elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing. METHODS AND RESULTS: We identified four individuals with an autosomal recessive condition affecting the central nervous system (CNS...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lahiry, Piya, Racacho, Lemuel, Wang, Jian, Robinson, John F, Gloor, Gregory B, Rupar, C Anthony, Siu, Victoria M, Bulman, Dennis E, Hegele, Robert A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765793/ https://www.ncbi.nlm.nih.gov/pubmed/23957953 http://dx.doi.org/10.1186/1750-1172-8-126

Ejemplares similares

Transcriptional Profiling of Endocrine Cerebro-Osteodysplasia Using Microarray and Next-Generation Sequencing
por: Lahiry, Piya, et al.
Publicado: (2011)

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency
por: Farhan, Sali M K, et al.
Publicado: (2014)

Intracellular autoactivation of TMPRSS11A, an airway epithelial transmembrane serine protease
por: Zhang, Ce, et al.
Publicado: (2020)

Magnesium treatment on methylation changes of transmembrane serine protease 2 (TMPRSS2)
por: Fan, Lei, et al.
Publicado: (2021)

Association of the Transmembrane Serine Protease-2 (TMPRSS2) Polymorphisms with COVID-19
por: Posadas-Sánchez, Rosalinda, et al.
Publicado: (2022)

Expression of trans-membrane serine protease 3 (TMPRSS3) in the human organ of Corti
por: Liu, Wei, et al.
Publicado: (2018)

Structural Basis of Covalent Inhibitory Mechanism of TMPRSS2-Related Serine Proteases by Camostat
por: Sun, Gaohui, et al.
Publicado: (2021)

Host Serine Proteases TMPRSS2 and TMPRSS11D Mediate Proteolytic Activation and Trypsin-Independent Infection in Group A Rotaviruses
por: Sasaki, Michihito, et al.
Publicado: (2021)

Retinal expression of the serine protease matriptase-2 (Tmprss6) and its role in retinal iron homeostasis
por: Gnana-Prakasam, Jaya P., et al.
Publicado: (2014)

Spontaneous binding of potential COVID-19 drugs (Camostat and Nafamostat) to human serine protease TMPRSS2
por: Zhu, Haixia, et al.
Publicado: (2020)

TMPRSS4, a type II transmembrane serine protease, as a potential therapeutic target in cancer
por: Kim, Semi
Publicado: (2023)

Posttranslational modifications of serine protease TMPRSS13 regulate zymogen activation, proteolytic activity, and cell surface localization
por: Martin, Carly E., et al.
Publicado: (2021)

Epithelial Sodium Channel-Mediated Sodium Transport Is Not Dependent on the Membrane-Bound Serine Protease CAP2/Tmprss4
por: Keppner, Anna, et al.
Publicado: (2015)

Knockdown of TMPRSS3, a Transmembrane Serine Protease, Inhibits Proliferation, Migration, and Invasion in Human Nasopharyngeal Carcinoma Cells
por: Wang, Jun-Ying, et al.
Publicado: (2018)

Computational Analysis of Missense Variants in the Human Transmembrane Protease Serine 2 (TMPRSS2) and SARS-CoV-2
por: Saih, Asmae, et al.
Publicado: (2021)

Transmembrane protease serine 2 (TMPRSS2) rs75603675, comorbidity, and sex are the primary predictors of COVID-19 severity
por: Villapalos-García, Gonzalo, et al.
Publicado: (2022)

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
por: Racacho, Lemuel, et al.
Publicado: (2015)

Transmembrane protease, serine 4 (TMPRSS4) is upregulated in IPF lungs and increases the fibrotic response in bleomycin-induced lung injury
por: Valero-Jiménez, Ana, et al.
Publicado: (2018)

Deletion of the serine protease CAP2/Tmprss4 leads to dysregulated renal water handling upon dietary potassium depletion
por: Keppner, Anna, et al.
Publicado: (2019)

In-silico screening for identification of potential inhibitors against SARS-CoV-2 transmembrane serine protease 2 (TMPRSS2)
por: Barge, Sagar, et al.
Publicado: (2021)

Molecular mechanisms involved in anosmia induced by SARS-CoV-2, with a focus on the transmembrane serine protease TMPRSS2
por: Karimian, Ali, et al.
Publicado: (2022)

Correction: Transmembrane protease serine 2 (TMPRSS2) rs75603675, comorbidity and sex are the primary predictors of Covid-19 severity
por: Villapalos-García, Gonzalo, et al.
Publicado: (2022)

Impact of SARS-CoV-2 Spike Mutations on Its Activation by TMPRSS2 and the Alternative TMPRSS13 Protease
por: Stevaert, Annelies, et al.
Publicado: (2022)

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration
por: Farhan, Sali M K, et al.
Publicado: (2016)

Transmembrane serine protease 2 (TMPRSS2) proteolytically activates the epithelial sodium channel (ENaC) by cleaving the channel’s γ-subunit
por: Sure, Florian, et al.
Publicado: (2022)

Transmembrane serine protease TMPRSS2 implicated in SARS-CoV-2 infection is autoactivated intracellularly and requires N-glycosylation for regulation
por: Zhang, Yikai, et al.
Publicado: (2022)

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
por: Oud, Machteld M., et al.
Publicado: (2016)

A Review on Expression, Pathological Roles, and Inhibition of TMPRSS2, the Serine Protease Responsible for SARS-CoV-2 Spike Protein Activation
por: Sarker, Jyotirmoy, et al.
Publicado: (2021)

RAndomized Clinical Trial Of NAfamostat Mesylate, A Potent Transmembrane Protease Serine 2 (TMPRSS2) Inhibitor, in Patients with COVID-19 Pneumonia
por: Seccia, Teresa Maria, et al.
Publicado: (2023)

Periodontitis promotes the expression of gingival transmembrane serine protease 2 (TMPRSS2), a priming protease for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)
por: Ohnishi, Tomokazu, et al.
Publicado: (2022)

Extracellular: Plasma Membrane Proteases – Serine Proteases
por: Antalis, T.M., et al.
Publicado: (2016)

The role of Serine Proteases and Serine Protease Inhibitors in the migration of Gonadotropin-Releasing Hormone neurons
por: Drapkin, Paola T, et al.
Publicado: (2002)

The Transmembrane Protease Serine 2 (TMPRSS2) Non-Protease Domains Regulating Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Spike-Mediated Virus Entry
por: Strobelt, Romano, et al.
Publicado: (2023)

A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA
por: Altamura, Sandro, et al.
Publicado: (2010)

Serine Proteases of Parasitic Helminths
por: Yang, Yong, et al.
Publicado: (2015)

Virtual Screening of Natural Products against Type II Transmembrane Serine Protease (TMPRSS2), the Priming Agent of Coronavirus 2 (SARS-CoV-2)
por: Rahman, Noor, et al.
Publicado: (2020)

Antibodies to Serine Proteases in the Antiphospholipid Syndrome
por: Chen, Pojen P., et al.
Publicado: (2010)

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
por: Dilliott, Allison A., et al.
Publicado: (2018)

Alpha 1 Antitrypsin is an Inhibitor of the SARS-CoV-2-Priming Protease TMPRSS2
por: Azouz, Nurit P., et al.
Publicado: (2020)

Alpha 1 Antitrypsin is an Inhibitor of the SARS-CoV-2–Priming Protease TMPRSS2
por: Azouz, Nurit P., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_i6ar435n25b6kdmi7f8pmti8up