Cargando…

Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion

Chediak–Higashi syndrome, caused by mutations in the Lysosome Trafficking Regulator (Lyst) gene, is a recessive hypopigmentation disorder characterized by albinism, neuropathies, neurodegeneration, and defective immune responses, with enlargement of lysosomes and lysosome-related organelles. Althoug...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ji, Xiaojie, Zhao, Lihong, Umapathy, Ankita, Fitzmaurice, Bernard, Wang, Jieping, Williams, David S., Chang, Bo, Naggert, Jürgen K., Nishina, Patsy M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893605/ https://www.ncbi.nlm.nih.gov/pubmed/35239671 http://dx.doi.org/10.1371/journal.pone.0254469

Ejemplares similares

Retinal Pigment Epithelium Atrophy 1 (rpea1): A New Mouse Model With Retinal Detachment Caused by a Disruption of Protein Kinase C, θ
por: Ji, Xiaojie, et al.
Publicado: (2016)

Mouse Model Resources for Vision Research
por: Won, Jungyeon, et al.
Publicado: (2011)

Spontaneous Posterior Segment Vascular Disease Phenotype of a Mouse Model, rnv3, Is Dependent on the Crb1(rd8) Allele
por: Chang, Bo, et al.
Publicado: (2018)

Single-Cell RNA Sequencing Reveals Molecular Features of Heterogeneity in the Murine Retinal Pigment Epithelium
por: Pandey, Ravi S., et al.
Publicado: (2022)

Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes
por: Gogna, Navdeep, et al.
Publicado: (2022)

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
por: Collin, Gayle B., et al.
Publicado: (2020)

A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis
por: Yang, Yeming, et al.
Publicado: (2021)

Gene Profiling of Postnatal Mfrp(rd6) Mutant Eyes Reveals Differential Accumulation of Prss56, Visual Cycle and Phototransduction mRNAs
por: Soundararajan, Ramani, et al.
Publicado: (2014)

A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction
por: Collin, Gayle B., et al.
Publicado: (2022)

A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice
por: Hyde, Lillian F., et al.
Publicado: (2022)

Elevated Oxidative Membrane Damage Associated with Genetic Modifiers of Lyst-Mutant Phenotypes
por: Trantow, Colleen M., et al.
Publicado: (2010)

Mouse models of human ocular disease for translational research
por: Krebs, Mark P., et al.
Publicado: (2017)

Control of Parasitophorous Vacuole Expansion by LYST/Beige Restricts the Intracellular Growth of Leishmania amazonensis
por: Wilson, Jude, et al.
Publicado: (2008)

Hereditary Spastic Paraplegia due to LYST Gene Mutation: A Novel Causative Gene
por: Mahale, Rohan R., et al.
Publicado: (2023)

The Arabidopsis LYST INTERACTING PROTEIN 5 Acts in Regulating Abscisic Acid Signaling and Drought Response
por: Xia, Zongliang, et al.
Publicado: (2016)

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
por: Song, Yinsen, et al.
Publicado: (2020)

Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1(rd8) mouse model
por: Weatherly, Sonia M., et al.
Publicado: (2022)

Lysosomal trafficking regulator Lyst links membrane trafficking to toll-like receptor–mediated inflammatory responses
por: Westphal, Andreas, et al.
Publicado: (2017)

Mauve/LYST limits fusion of lysosome-related organelles and promotes centrosomal recruitment of microtubule nucleating proteins
por: Lattao, Ramona, et al.
Publicado: (2021)

Genome mapping of a LYST mutation in corn snakes indicates that vertebrate chromatophore vesicles are lysosome-related organelles
por: Ullate-Agote, Asier, et al.
Publicado: (2020)

QS10: The Lysosomal Trafficking Regulator (LYST) Protein is a Novel and Essential Mediator of Cutaneous Wound Healing
por: Barker, Jenny C., et al.
Publicado: (2021)

Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST
por: Buckley, R. M., et al.
Publicado: (2020)

Disruption in murine Eml1 perturbs retinal lamination during early development
por: Collin, G. B., et al.
Publicado: (2020)

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease
por: Weisfeld-Adams, James D, et al.
Publicado: (2013)

Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report
por: Sheng, Lingshuang, et al.
Publicado: (2019)

Conditional Müller Cell Ablation Leads to Retinal Iron Accumulation
por: Baumann, Bailey, et al.
Publicado: (2017)

The Maize AAA-Type Protein SKD1 Confers Enhanced Salt and Drought Stress Tolerance in Transgenic Tobacco by Interacting with Lyst-Interacting Protein 5
por: Xia, Zongliang, et al.
Publicado: (2013)

Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome
por: Boluda-Navarro, Mireia, et al.
Publicado: (2021)

Zinc Deficiency Leads to Lipofuscin Accumulation in the Retinal Pigment Epithelium of Pigmented Rats
por: Julien, Sylvie, et al.
Publicado: (2011)

A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e
por: Naggert, Anna S. E. N., et al.
Publicado: (2023)

Polyprotein processing and intermolecular interactions within the viral replication complex spatially and temporally control norovirus protease activity
por: Emmott, Edward, et al.
Publicado: (2019)

Protease-controlled secretion and display of intercellular signals
por: Vlahos, Alexander E., et al.
Publicado: (2022)

A mutagenesis-derived Lrp5 mouse mutant with abnormal retinal vasculature and low bone mineral density
por: Charette, Jeremy R., et al.
Publicado: (2017)

Secretion of Proteases by an Opportunistic Fungal Pathogen Scedosporium aurantiacum
por: Han, Zhiping, et al.
Publicado: (2017)

Functional Characterization of Secreted Aspartyl Proteases in Candida parapsilosis
por: Singh, Dhirendra Kumar, et al.
Publicado: (2019)

Unraveling the Impact of Secreted Proteases on Hypervirulence in Staphylococcus aureus
por: Gimza, Brittney D., et al.
Publicado: (2021)

Insulin secretion hot spots in pancreatic β cells as secreting adhesions
por: Fye, Margret A., et al.
Publicado: (2023)

Selective Grafting of Protease-Resistant Adhesive Peptides on Titanium Surfaces
por: Zamuner, Annj, et al.
Publicado: (2022)

Dual countertraction for extraction of abandoned leads with severe lead‐to‐lead adhesion
por: Toba, Masahiro, et al.
Publicado: (2021)

Antioxidant Delivery Pathways in the Anterior Eye
por: Umapathy, Ankita, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_cfkcoukrcenvm30flli0scc1t6