NGLY1
  • Contact Us
  • Newsletter
  • Blog
  • What is NGLY1?
    • Symptoms
    • Diagnosis
    • Prognosis
  • Family Support
  • Healthcare Professionals
    • Patient Care – Medical
    • Patient Care – Support
  • Research
    • Genetics and Pathway
    • Protocol Collaboration with the NIH
    • Samples available from Coriell
  • What is NGLY1?
    • Symptoms
    • Diagnosis
    • Prognosis
  • Family Support
    • NGLYL1 Handbook
  • Healthcare Professionals
    • Patient Care – Support
    • Patient Care – Medical
    • NGLY1 Handbook
  • Research
    • Genetics and Pathway
    • Protocol Collaboration at the NIH
    • Samples available from Coriell
    • Research Journal Articles
  • Contact Us
  • Newsletter
  • Blog
  • What is NGLY1?
    • Symptoms
    • Diagnosis
    • Prognosis
  • Family Support
  • Healthcare Professionals
    • Patient Care – Medical
    • Patient Care – Support
  • Research
    • Genetics and Pathway
    • Protocol Collaboration with the NIH
    • Samples available from Coriell

Blog

Jan 17
1

Why can’t Bertrand Might cry? Scientists offer an answer: missing water channels

By admin | Research and Science | No Comments
Scientists at Sanford Burnham Prebys Medical Discovery Institute have shown that cells from children with NGLY1 deficiency—a rare disorder first described in 2012—lack sufficient water channel proteins called aquaporins. The...
Read More
Dec 10
1

NGLY1.org Research update: Generation of an induced pluripotent stem cell line …

By admin | Research and Science, Researchers and Clinicians | No Comments

NGLY1.org is thrilled to be actively involved in this important research! Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations…

Read More
Nov 19
0

Research Update: Suggestion that targeting NGLY1 represents a novel anti-melanoma strategy

By admin | Research and Science | No Comments
Stress and interferon signaling-mediated apoptosis contributes to pleiotropic anticancer responses induced by targeting NGLY1 (read more) Background Although NGLY1 is known as a pivotal enzyme that catalyses the deglycosylation of...
Read More
Feb 08
0

Rare NGLY1 Mutation Samples Now Available from Coriell Institute

By admin | Research and Science | No Comments
The Coriell Institute for Medical Research is proud to announce the release of new samples representing N-glycanase deficiency, caused by a mutation on the NGLY 1 gene, also known as...
Read More
Oct 03
0

Job Opportunity: Postdoc for Innovative NGLY1 Project

By NGLY1.org | Research and Science | No Comments

BIOLOGY OF RARE AND NEGLECTED DISEASES NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES, BETHESDA, MD AND SURROUNDING AREA Position Description: The biology group in the Therapeutics for Rare and Neglected Disease…

Read More
Sep 05
1

Exciting News! CRADA with Retrophin, NCATS and NGLY1.org

By NGLY1.org | Media, NGLY1 Deficiency, NGLY1.org, Research and Science | No Comments
SAN DIEGO, Sept. 05, 2017 (GLOBE NEWSWIRE) -- Retrophin, Inc. (NASDAQ:RTRX) today announced that it has entered into a three-way Cooperative Research and Development Agreement (CRADA) with the National Institutes...
Read More
Aug 06
0

PUBLISHED: Mitochondrial function requires NGLY1

By NGLY1.org | CDG, NGLY1 Deficiency, Research and Science | No Comments
Recently published on Pubmed. Mitochondrial respiratory chain (RC) diseases and congenital disorders of glycosylation (CDG) share extensive clinical overlap but are considered to have distinct cellular pathophysiology. Here, we demonstrate...
Read More
NextPrevious »

Recent Posts

  • Why can’t Bertrand Might cry? Scientists offer an answer: missing water channels
  • NGLY1.org Research update: Generation of an induced pluripotent stem cell line …
  • Research Update: Suggestion that targeting NGLY1 represents a novel anti-melanoma strategy
  • Superhuman Video: The Might Family
  • NGLY1 Family Story – Marc F

Recent Comments

  • Lili Torres on NGLY1 Family Story – Marc F
  • Cláudia mãe on Interview with Christina Lam, NGLY1 Specialist
  • Emile najm on NGLY1: Data as a Drug Presentation at NIH/NCATS
  • Kimberly Palma-Ortega on Announcing Our New Executive Director
  • Misak Zetilyan on President Obama congratulates the NGLY1 community

Archives

  • January 2020
  • December 2018
  • November 2018
  • May 2018
  • April 2018
  • March 2018
  • February 2018
  • November 2017
  • October 2017
  • September 2017
  • August 2017
  • July 2017
  • June 2017
  • May 2017
  • April 2017
  • March 2017
  • February 2017
  • December 2016
  • November 2016
  • October 2016
  • March 2016
  • February 2015
  • January 2015
  • November 2014
  • October 2014
  • July 2014
  • June 2014
  • October 2013
  • September 2012

Categories

  • CDG
  • Events
  • Media
  • NGLY1 Champions
  • NGLY1 Community
  • NGLY1 Deficiency
  • NGLY1 Families
  • NGLY1.org
  • Partners
  • Precision Medicine
  • Public Policy
  • Rare Disease
  • Research and Science
  • Researchers and Clinicians
  • Resources
  • Studies

Meta

  • Log in
  • Entries feed
  • Comments feed
  • WordPress.org

Contact Us

CDG CARE
P.O. Box 38832
Colorado Springs, CO 80937
info@cdgcare.org
+1 (866) 295-7910

Sign up for our newsletter

  • This field is for validation purposes and should be left unchanged.
Privacy Policy
Donate to NGLY1.org

© 2020 NGLY1.org