Presence of mutant GBA allele leads to ER stress and development of Parkinson disease

Horowitz, Mia; Maor, Gali; Krivoluk, Olga; Cabasso, Or

doi:10.1016/j.ymgme.2015.12.293

Search citation statements

Order By: Relevance

Paper Sections

Select...

Differential Diagnosis1

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2017

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Another potential chaperone for glucocerebrosidase is ambroxol, a drug marketed as an expectorant. It was found through a drug screen to be a mixed inhibitor of glucocerebrosidase, and its potency has been shown in cell, murine and drosophila models [ 48 , 49 , 50 ]. One preliminary study conducted in Japan was performed on 12 patients with type 1 GD and five with type 3 GD.…”

Section: Differential Diagnosismentioning

confidence: 99%

The Spectrum of Neurological Manifestations Associated with Gaucher Disease

Lal

Sidransky

2017

Diseases

View full text Add to dashboard Cite

Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Phenotypically, there is a wide spectrum of visceral and neurological manifestations. Enzyme replacement is effective in managing the visceral disease; however, treating the neurological manifestations has proved to be more challenging. This review discusses the various neurological manifestations encountered in Gaucher disease, and provides a brief overview regarding the treatment and ongoing research challenges.

show abstract

Section: Differential Diagnosismentioning

confidence: 99%