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Blog

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...
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Mar 19
0

Download our new “About NGLY1 Handbook”

By admin | NGLY1 Deficiency, Resources | No Comments
Download our "About NGLY1 Deficiency" handbook today at https://www.ngly1.org/handbook.   This comprehensive booklet includes information on: * Symptoms * Diagnosis * Prognosis * Medical Patient Care * Therapies ... and...
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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...
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May 05
0

Join Mark2CureAThon to Find Discoveries for NGLY1

By NGLY1.org | Events | No Comments
Join the Mark2CureAThon on May 11/12 to search for clues on a rare disease by identifying genes, diseases, drugs, and the relationships between these based on literature surrounding the NGLY1. ...
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Apr 27
0

Promising mouse model for a devastating genetic deficiency

By NGLY1.org | Research and Science | No Comments
Researchers from the RIKEN Global Research Cluster in Japan have developed a potential mouse model for the genetic disorder known as an NGLY1 deficiency. Published in the journal PLOS Genetics,...
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Apr 05
0

Mitali Tambe, Ph.D. – On a RARE Journey to Therapy

By NGLY1.org | Researchers and Clinicians | No Comments

Mitali Tambe, Ph.D., from the Hudson Freeze Lab at Sanford Burnham Prebys Research Institute presented on NGLY1 for the ASBMB’s Art of Science Communication.

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Feb 19
0

Journal Article: Prospective phenotyping of NGLY1-CDDG

By NGLY1.org | CDG, NGLY1 Deficiency, Research and Science | No Comments

Recent research in the NGLY1 community has been published on Nature.com.  To read the entire journal article called “JOURNAL ARTICLE: Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation”,…

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