Cargando…

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

TRAPPC11 was identified as a component of the TRAPP III complex that functions in membrane trafficking and autophagy. Variants in TRAPPC11 have been reported to be associated with a broad spectrum of phenotypes but all affected individuals display muscular pathology. Identifying additional variants...

Descripción completa

Detalles Bibliográficos
Autores principales:	Milev, Miroslav P., Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Benito, Daniel Natera-de, Barrios, Desiré González, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, Jimenez-Mallebrera, Cecilia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773699/ https://www.ncbi.nlm.nih.gov/pubmed/31575891 http://dx.doi.org/10.1038/s41598-019-50415-6

Ejemplares similares

Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
por: Milev, Miroslav P., et al.
Publicado: (2020)

TRAMM/TrappC12 plays a role in chromosome congression, kinetochore stability, and CENP-E recruitment
por: Milev, Miroslav P., et al.
Publicado: (2015)

Mitotic transformation of TRAMM/TrappC12
por: Milev, Miroslav P., et al.
Publicado: (2015)

The TRAPP Subunit Trs130p Interacts with the GAP Gyp6p to Mediate Ypt6p Dynamics at the Late Golgi
por: Brunet, Stephanie, et al.
Publicado: (2016)

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice
por: Rawlins, Lettie E., et al.
Publicado: (2022)

trappc11 is required for protein glycosylation in zebrafish and humans
por: DeRossi, Charles, et al.
Publicado: (2016)

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
por: Justel, Maria, et al.
Publicado: (2023)

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy
por: Larson, Austin A., et al.
Publicado: (2018)

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
por: Trifunov, Selena, et al.
Publicado: (2020)

The Adaptor Function of TRAPPC2 in Mammalian TRAPPs Explains TRAPPC2-Associated SEDT and TRAPPC9-Associated Congenital Intellectual Disability
por: Zong, Min, et al.
Publicado: (2011)

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations
por: Juan-Mateu, Jonas, et al.
Publicado: (2015)

Distinct Roles of TRAPPC8 and TRAPPC12 in Ciliogenesis via Their Interactions With OFD1
por: Zhang, Caiyun, et al.
Publicado: (2020)

Identification of a peroxisomal targeting signal at the carboxy terminus of firefly luciferase
Publicado: (1987)

Modification of the L1-CAM carboxy-terminus in pancreatic adenocarcinoma cells
por: Chen, Maxine M., et al.
Publicado: (2010)

Preclinical characterization of therapeutic antibodies targeted at the carboxy-terminus of Sonic hedgehog
por: Tolani, Bhairavi, et al.
Publicado: (2018)

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes
por: Juan-Mateu, Jonàs, et al.
Publicado: (2013)

The SMS domain of Trs23p is responsible for the in vitro appearance of the TRAPP I complex in Saccharomyces cerevisiae
por: Brunet, Stephanie, et al.
Publicado: (2012)

Identification of peroxisomal targeting signals located at the carboxy terminus of four peroxisomal proteins
Publicado: (1988)

Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
por: Segarra-Casas, Alba, et al.
Publicado: (2023)

Identification of the carboxy terminus as important for the isoform- specific subcellular targeting of glucose transporter proteins
Publicado: (1993)

Membrane binding of the neuronal calcium sensor recoverin – modulatory role of the charged carboxy-terminus
por: Senin, Ivan I, et al.
Publicado: (2007)

The Carboxy-terminus of BAK1 regulates kinase activity and is required for normal growth of Arabidopsis
por: Oh, Man-Ho, et al.
Publicado: (2014)

Phage display and selection of lanthipeptides on the carboxy-terminus of the gene-3 minor coat protein
por: Urban, Johannes H., et al.
Publicado: (2017)

Cysteine residues in the cytoplasmic carboxy terminus of connexins dictate gap junction plaque stability
por: Stout, Randy F., et al.
Publicado: (2017)

Distinct overlapping sequences at the carboxy-terminus of merlin regulate its tumour suppressor and morphogenic activity
por: Laulajainen, Minja, et al.
Publicado: (2012)

Retraction: The Carboxy-terminus of BAK1 regulates kinase activity and is required for normal growth of Arabidopsis
Publicado: (2016)

Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva
por: Lucaciu, Sergiu A., et al.
Publicado: (2022)

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype
por: Liang, Wen-Chen, et al.
Publicado: (2015)

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts
por: López-Márquez, Arístides, et al.
Publicado: (2022)

The Energetics of Streptococcal Enolase Octamer Formation: The Quantitative Contributions of the Last Eight Amino Acids at the Carboxy-Terminus
por: Kornblatt, Jack A., et al.
Publicado: (2015)

Carboxy terminus of GATA4 transcription factor is required for its cardiogenic activity and interaction with CDK4
por: Gallagher, Joseph M., et al.
Publicado: (2014)

The Carboxy Terminus of YCF1 Contains a Motif Conserved throughout >500 Myr of Streptophyte Evolution
por: de Vries, Jan, et al.
Publicado: (2017)

Trappc9 Deficiency Impairs the Plasticity of Stem Cells
por: Usman, Muhammad, et al.
Publicado: (2022)

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen
por: Trifunov, Selena, et al.
Publicado: (2023)

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
por: Juan-Mateu, Jonàs, et al.
Publicado: (2012)

Development and characterization of carboxy-terminus specific monoclonal antibodies for understanding MUC16 cleavage in human ovarian cancer
por: Aithal, Abhijit, et al.
Publicado: (2018)

Melanopsin Carboxy-terminus phosphorylation plasticity and bulk negative charge, not strict site specificity, achieves phototransduction deactivation
por: Valdez-Lopez, Juan C., et al.
Publicado: (2020)

Mouse hepatitis virus nucleocapsid protein-specific cytotoxic T lymphocytes are L(d) restricted and specific for the carboxy terminus
por: Astohlman, Stephen, et al.
Publicado: (1992)

The carboxy‐terminus of the human ARPKD protein fibrocystin can control STAT3 signalling by regulating SRC‐activation
por: Dafinger, Claudia, et al.
Publicado: (2020)

Identification of Critical Residues in the Carboxy Terminus of the Dopamine Transporter Involved in the G Protein βγ-Induced Dopamine Efflux
por: Pino, José A., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_8b26ffeiqeg6ab1ob9uaog7djn