Posts by: Marisa Wexler

News

A new mouse model of Gaucher disease type 3 may be more useful for studies of disease biology and preliminary tests of possible treatments than those now in use. ... Read more

May 30, 2019May 30, 2019

Saposin C Protein Key in Regulating Gaucher Disease Severity, Mouse Study Shows

News

Lack of a functional protein called saposin C protein and different mutations affecting its coding gene can significantly affect the severity of Gaucher disease symptoms, a study in mice ... Read more

April 11, 2019

Computer Model Reveals Changes in Glucocerebrosidase Function in Certain Gaucher Mutations

News

Using machine-learning approaches, researchers unraveled how certain mutations in the GBA gene — responsible for Gaucher disease — affect the function of the glucocerebrosidase enzyme at the molecular level. The study ... Read more

February 26, 2019

Four New Gaucher Disease Mutations Found in Indian Patients

News

A new study reports the spectrum of mutations present in Gaucher disease patients in India, identifying four previously unknown mutations and suggesting which ones might be most prevalent in that ... Read more

February 5, 2019

ERT Helps Partially Restore Recycling Process in Cells from Gaucher, Fabry Patients, Study Shows

News

Enzyme replacement therapy (ERT) can help restore the normal organelle recycling processes that happen in cells, improving energy production in Gaucher and Fabry disease patients, a study has found. ... Read more

January 22, 2019

Computer Simulation Identifies Treatments More Likely to Correct GBA Transport in Gaucher Patients, Study Says

News

A computer simulation — examining how some therapies interact with the two most common β-glucocerebrosidase (GBA) mutated forms in Gaucher disease — identified NN-DNJ and ambroxol as the most active treatments for ... Read more

January 15, 2019

Researchers Develop 2 Stem Cell Lines from Skin Cells of Gaucher Disease Patients

News

Two new stem cell lines from patients with Gaucher disease have been developed and made available for studies, researchers report. The induced pluripotent stem cell (iPSC) lines — adult ... Read more

January 10, 2019

Case Report Describes First Patient with Both Gaucher Disease, Severe Congenital Neutropenia

News

A new case report describes an infant who presented with two rare blood cell diseases simultaneously: Gaucher disease (GD) and severe congenital neutropenia (SCN). This is the first reported ... Read more

January 8, 2019

Study Shows Feasibility of Screening High-risk Gaucher Patients

News

A Canadian study shows that it is feasible to screen high risk patients — those with an enlarged spleen, low platelet levels, or both — for Gaucher disease in ... Read more

Posts by: Marisa Wexler

Marisa Wexler

New Mouse Model of Gaucher Type 3 May Aid Studies into Disease and Possible Treatments

Saposin C Protein Key in Regulating Gaucher Disease Severity, Mouse Study Shows

Computer Model Reveals Changes in Glucocerebrosidase Function in Certain Gaucher Mutations

Four New Gaucher Disease Mutations Found in Indian Patients

ERT Helps Partially Restore Recycling Process in Cells from Gaucher, Fabry Patients, Study Shows

Computer Simulation Identifies Treatments More Likely to Correct GBA Transport in Gaucher Patients, Study Says

Researchers Develop 2 Stem Cell Lines from Skin Cells of Gaucher Disease Patients

Case Report Describes First Patient with Both Gaucher Disease, Severe Congenital Neutropenia

Study Shows Feasibility of Screening High-risk Gaucher Patients

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