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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...
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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…

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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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May 30
26

Superhuman Video: The Might Family

By admin | Media, NGLY1 Families | No Comments

Check out this powerful video about how our first NGLY1 Deficiency patient was found, and the incredible Might family (founders of NGLY1.org) who work tirelessly to help others affected by NGLY1…

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May 15
4

NGLY1 Family Story – Marc F

By admin | NGLY1 Families | One Comment
Written by Marc's dad, Jordi. Marc was born with low weight and stayed in the NICU for three weeks. When he was three month old, during a routine visit to...
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May 09
0

NGLY1 Family Article Excerpt: ‘Take care of yourself first’

By admin | NGLY1 Families | No Comments
Reprinted from the BLOOM BLOOM is talking to parents to learn about what they do to care for their mental health. First up is Laura Meffen. Laura’s daughter Emily Kerr,...
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May 05
0

Interview with Christina Lam, NGLY1 Specialist

By admin | Researchers and Clinicians | One Comment
Can you share a bit of your background?​ I was born and grew up in the Bay Area and then continued my education in Southern California. I knew science what...
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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

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