NGLY1 Deficiency News and Research

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Research shows how loss of de-N-glycosylation enzyme causes detrimental effects

Peptide: N-glycanase (NGLY1) is an evolutionarily conserved enzyme for removing N-linked glycans (N-glycans) from glycoproteins and is involved in proteostasis of N-glycoproteins in the cytosol. In 2012, a rare genetic disorder called NGLY1 deficiency was discovered by an exome analysis.

7 Jul 2021

Genetic interactions may shed light on NGLY1 deficiency

In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand's diagnosis allowed doctors to look for other children with the same genetic defect. Since then, more than 60 additional patients have been found.

26 Jan 2021

Insights from NGLY1 deficiency could provide new approach to treat blood cancers

A new class of drugs for blood cancers such as leukemia and multiple myeloma is showing promise. But it is hobbled by a problem that also plagues other cancer drugs: targeted cells can develop resistance.

25 Oct 2017

MGH investigators discover key molecules essential for sensing proteasome dysfunction

Maintaining appropriate levels of proteins within cells largely relies on a cellular component called the proteasome, which degrades unneeded or defective proteins to recycle the components for the eventual assembly of new proteins.

16 Aug 2016

RIKEN joins with Grace Science Foundation to gain better understanding of NGLY1 deficiency

RIKEN has entered into a collaboration with the Grace Science Foundation to conduct research on NGLY1 deficiency, a rare genetic disorder that was discovered in 2012 by American doctors.

15 Jun 2016

Study leads to discovery of rare genetic disorder

Recently, a grassroots effort initiated by families and clinicians led to the discovery of a human genetic disorder with severe consequences that is linked to a mutation in the human NGLY1 gene. In a big step towards understanding the effects of this mutation, research by scientists at the RIKEN-Max Planck Joint Research Center in Japan implicates the enzyme ENGase as the factor responsible for deficient protein degradation that occurs in the absence of mouse Ngly1 gene expression.

19 Jan 2015