M. Martins

发表

Structural and Functional Integration of the PLCγ Interaction Domains Critical for Regulatory Mechanisms and Signaling Deregulation

D. Svergun, P. Driscoll, M. Katan, 2012, Structure.

Frequent and persistent PLCG1 mutations in Sézary cells directly enhance PLCγ1 activity and stimulate NFκB, AP-1 and NFAT signaling. Short title: Gain-of-function PLCG1 mutations in Sézary Syndrome.

S. Whittaker, Charlotte E. Flanagan, M. Katan, 2020, The Journal of investigative dermatology.

Frequent and Persistent PLCG1 Mutations in Se´zary Cells Directly Enhance PLC g 1 Activity and Stimulate NF k B, AP-1, and NFAT Signaling

S. Whittaker, Charlotte E. Flanagan, M. Katan, 2020 .

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.

Qing Zhou, Susan Moir, Matilda Katan, 2012, American journal of human genetics.

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

Eric O Long, K. Shianna, D. Goldstein, 2012, The New England journal of medicine.

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

P. Whiting, J. Bilsland, T. Golde, 2018, bioRxiv.

Activity of PLC&egr; contributes to chemotaxis of fibroblasts towards PDGF

C. Marshall, A. Mccarthy, C. Dunsby, 2012, Journal of Cell Science.

Tumor suppressor role of phospholipase Cε in Ras-triggered cancers

N. Kessaris, M. El-Bahrawy, A. Mccarthy, 2014, Proceedings of the National Academy of Sciences.

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

P. Whiting, J. Bilsland, T. Golde, 2019, Alzheimer's Research & Therapy.

Epigenetic regulation of BACE1 in Alzheimer’s disease patients and in transgenic mice

I. Santana, A. Mendonça, E. Ferreiro, 2012, Neuroscience.

EPIGENETIC REGULATION OF BACE 1 IN ALZHEIMER ’ S DISEASE PATIENTS AND IN TRANSGENIC MICE

I. Santana, A. Mendonça, E. Ferreiro, 2012 .

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

S. Nejentsev, V. Plagnol, M. Katan, 2018, Front. Immunol..

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

P. Whiting, T. Golde, P. Cruz, 2018, bioRxiv.

Dynamic Allostery in PLCγ1 and Its Modulation by a Cancer Mutation Revealed by MD Simulation and NMR

P. Driscoll, M. Katan, T. D. Bunney, 2018, Biophysical journal.

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

Eric O Long, K. Shianna, D. Goldstein, 2012, The New England journal of medicine.