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Mechanism of action of proteostasis activators
The research group U746 CIBERER from the Madrid and led by Dr. Belén Pérez just published very promising results regarding a possible therapeutic strategy for PMM2-CDG. Dr. Bélen's team evaluated the effect of proteostasis regulators in the stability and activity of several variants of PMM2 and showed their potential to rescue the PMM2 defect.
Recording of the webinar "Let's talk CDG?". This webinar took place on 19 May 2020 and it was facilitated by Miligrama. Prof Paula Videira and Rita Francisco were the sesion speakers.
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At this time of crisis and with the health, safety and well-being of patients and caregivers as its top priorities, the National Organization for Rare Disorders (NORD®) launched its COVID-19 Critical Relief Program to provide much-needed assistance to members of the rare community affected by the COVID-19 pandemic. The program provides financial relief that may be utilized to support critical, non-medical needs.


Global Patients Congress

9th Global Patients Congress

United Kingdom
Rare Disease Day Logo

Rare Disease Day 2021

WCDGO logo 16:9

5th World CDG Conference