Cargando…

Alzheimer’s disease phospholipase C-gamma-2 (PLCG2) protective variant is a functional hypermorph

BACKGROUND: Recent Genome Wide Association Studies (GWAS) have identified novel rare coding variants in immune genes associated with late onset Alzheimer’s disease (LOAD). Amongst these, a polymorphism in phospholipase C-gamma 2 (PLCG2) P522R has been reported to be protective against LOAD. PLC enzy...

Descripción completa

Detalles Bibliográficos
Autores principales:	Magno, Lorenza, Lessard, Christian B., Martins, Marta, Lang, Verena, Cruz, Pedro, Asi, Yasmine, Katan, Matilda, Bilsland, Jamie, Lashley, Tammaryn, Chakrabarty, Paramita, Golde, Todd E., Whiting, Paul J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6359863/ https://www.ncbi.nlm.nih.gov/pubmed/30711010 http://dx.doi.org/10.1186/s13195-019-0469-0

Ejemplares similares

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations
por: Martín-Nalda, Andrea, et al.
Publicado: (2020)

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa
por: Neves, João Farela, et al.
Publicado: (2018)

Heterogeneous Nuclear Ribonucleoproteins: Implications in Neurological Diseases
por: Low, Yi-Hua, et al.
Publicado: (2020)

Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference
por: Kutukculer, Necil, et al.
Publicado: (2021)

Phospholipase C gamma 1 (PLCG1) R707Q mutation is counterselected under targeted therapy in a patient with hepatic angiosarcoma
por: Prenen, Hans, et al.
Publicado: (2015)

Learning the Effect of Registration Hyperparameters with HyperMorph
por: Hoopes, Andrew, et al.
Publicado: (2022)

Recurrent PTPRB and PLCG1 mutations in angiosarcoma
por: Behjati, Sam, et al.
Publicado: (2014)

Alzheimer's disease risk alleles in TREM2 illuminate innate immunity in Alzheimer's disease
por: Golde, Todd E, et al.
Publicado: (2013)

Hypo- and Hypermorphic FOXC1 Mutations in Dominant Glaucoma: Transactivation and Phenotypic Variability
por: Medina-Trillo, Cristina, et al.
Publicado: (2015)

PLCG2 is associated with the inflammatory response and is induced by amyloid plaques in Alzheimer’s disease
por: Tsai, Andy P., et al.
Publicado: (2022)

Structural insights and activating mutations in diverse pathologies define mechanisms of deregulation for phospholipase C gamma enzymes
por: Liu, Yang, et al.
Publicado: (2020)

An Allele of Arabidopsis COI1 with Hypo- and Hypermorphic Phenotypes in Plant Growth, Defence and Fertility
por: Dobón, Albor, et al.
Publicado: (2013)

Analysis of transient hypermorphic activity of E(spl)(D) during R8 specification
por: Majot, Adam T., et al.
Publicado: (2017)

PLCG2 as a potential indicator of tumor microenvironment remodeling in soft tissue sarcoma
por: Li, Zhengtian, et al.
Publicado: (2021)

Clinical and immunological features of an APLAID patient caused by a novel mutation in PLCG2
por: Peng, Qi, et al.
Publicado: (2023)

BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib
por: Bonfiglio, Silvia, et al.
Publicado: (2023)

Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration
por: Davidson, Yvonne S., et al.
Publicado: (2017)

Phospholipase Cγ1 (PLCG1) overexpression is associated with tumor growth and poor survival in IDH wild-type lower-grade gliomas in adult patients
por: Li, Tianwen, et al.
Publicado: (2021)

A quantitative hypermorphic CNGC allele confers ectopic calcium flux and impairs cellular development
por: Chiasson, David M, et al.
Publicado: (2017)

P614: NOVEL SPLICE-SITE MUTATION IN PLCG2 ASSOCIATED WITH RESISTANCE TO BTK INHIBITORS
por: Qi, Jialei, et al.
Publicado: (2023)

Characterization of the membrane interactions of phospholipase Cγ reveals key features of the active enzyme
por: Le Huray, Kyle I. P., et al.
Publicado: (2022)

Reduced PLCG1 expression is associated with inferior survival for myelodysplastic syndromes
por: Shiseki, Masayuki, et al.
Publicado: (2019)

ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans
por: Conway, Olivia J, et al.
Publicado: (2018)

Rescue of hematopoietic stem/progenitor cells formation in plcg1 zebrafish mutant
por: Ferri-Lagneau, Karine F., et al.
Publicado: (2019)

A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism
por: Imler, Elliot, et al.
Publicado: (2019)

Rac Regulates Its Effector Phospholipase Cγ(2) through Interaction with a Split Pleckstrin Homology Domain
por: Walliser, Claudia, et al.
Publicado: (2008)

A hypermorphic epithelial β-catenin mutation facilitates intestinal tumorigenesis in mice in response to compounding WNT-pathway mutations
por: Buchert, Michael, et al.
Publicado: (2015)

A hypermorphic antioxidant response element is associated with increased MS4A6A expression and Alzheimer's disease
por: Lacher, Sarah E., et al.
Publicado: (2017)

Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution
por: Frasca, Angelisa, et al.
Publicado: (2022)

Kinomic profiling of glioblastoma cells reveals PLCG1 as a target in restricted glucose
por: Walker, Kiera, et al.
Publicado: (2018)

Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review
por: Welzel, Tatjana, et al.
Publicado: (2022)

PB1912: BTK AND PLCG2 GENE MUTATIONS IN CHRONIC LYMPHOCYTIC LEUKEMIA PATIENTS WITH RESISTANCE TO COVALENT BTK INHIBITOR
por: Likold, Ekaterina, et al.
Publicado: (2023)

Normal cognition in transgenic BRI2-Aβ mice
por: Kim, Jungsu, et al.
Publicado: (2013)

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases
por: Novice, Taylor, et al.
Publicado: (2019)

Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease
por: Dalmasso, Maria Carolina, et al.
Publicado: (2019)

Hippocampal expression of murine TNFα results in attenuation of amyloid deposition in vivo
por: Chakrabarty, Paramita, et al.
Publicado: (2011)

A Gain-Of-Function Mutation in the Plcg2 Gene Protects Mice from Helicobacter felis-Induced Gastric MALT Lymphoma
por: Gossmann, Jennifer, et al.
Publicado: (2016)

Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy
por: Strickland, Samantha L., et al.
Publicado: (2020)

PLCG2 can exist in eccDNA and contribute to the metastasis of non-small cell lung cancer by regulating mitochondrial respiration
por: Yang, Yongfeng, et al.
Publicado: (2023)

HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing
por: Bampton, Alexander, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_kbj2ma2ve7i7ps5cj1tv9scnsh