Ellen Sidransky
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Explore the profile of Ellen Sidransky including associated specialties, affiliations and a list of published articles.
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Articles
185
Citations
6557
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Recent Articles
1.
Nishimura S, Ma C, Sidransky E, Ryan E
Ther Clin Risk Manag
. 2025 Jan;
21:93-101.
PMID: 39882275
Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the gene. Patients may present with a...
2.
Williams D, Glasstetter L, Jong T, Chen T, Kapoor A, Zhu S, et al.
Proc Natl Acad Sci U S A
. 2024 Oct;
121(42):e2406009121.
PMID: 39388267
Glucocerebrosidase (GCase) is implicated in both a rare, monogenic disorder (Gaucher disease, GD) and a common, multifactorial condition (Parkinson's disease, PD); hence, it is an urgent therapeutic target. To identify...
3.
Vieira S, Mezabrovschi R, Toffoli M, Del Pozo S, Menozzi E, Mullin S, et al.
Mov Disord
. 2024 Sep;
39(12):2144-2154.
PMID: 39258449
Glucocerebrosidase (GBA1) variants constitute numerically the most common known genetic risk factor for Parkinson's disease (PD) and are distributed worldwide. Access to GBA1 genotyping varies across the world and even...
4.
Hertz E, Chen Y, Sidransky E
Nat Rev Neurol
. 2024 Aug;
20(9):526-540.
PMID: 39107435
An exciting development in the field of neurodegeneration is the association between the rare monogenic disorder Gaucher disease and the common complex disorder Parkinson disease (PD). Gaucher disease is a...
5.
Ma C, Rytel K, Chen Y, Sidransky E
Neural Regen Res
. 2024 Jul;
20(4):1085-1086.
PMID: 38989943
No abstract available.
6.
Walton S, Fenyi A, Tittle T, Sidransky E, Pal G, Choi S, et al.
NPJ Parkinsons Dis
. 2024 May;
10(1):105.
PMID: 38773124
Parkinson's disease (PD) is a neurodegenerative disease characterized by progressive motor symptoms and alpha-synuclein (αsyn) aggregation in the nervous system. For unclear reasons, PD patients with certain GBA1 mutations (GBA-PD)...
7.
Williams D, Glasstetter L, Jong T, Kapoor A, Zhu S, Zhu Y, et al.
bioRxiv
. 2024 May;
PMID: 38712038
Glucocerebrosidase (GCase) is implicated in both a rare, monogenic disorder (Gaucher disease, GD) and a common, multifactorial condition (Parkinson's disease); hence, it is an urgent therapeutic target. To identify correctors...
8.
Ryan E, Nishimura S, Lopez G, Tayebi N, Sidransky E
Am J Med Genet A
. 2024 Apr;
194(9):e63630.
PMID: 38647370
Gaucher disease (GD) is an autosomal recessively inherited lysosomal storage disorder caused by biallelic pathological variants in the GBA1 gene. Patients present along a broad clinical spectrum, and phenotypes are...
9.
Kulkarni A, Chen T, Sidransky E, Han T
Genes (Basel)
. 2024 Mar;
15(3).
PMID: 38540423
Gaucher disease, an autosomal recessively inherited lysosomal storage disorder, results from biallelic mutations in the gene resulting in deficient activity of the enzyme glucocerebrosidase. In Gaucher disease, the reduced levels...
10.
Hertz E, Perez G, Hao Y, Rytel K, Ma C, Kirby M, et al.
bioRxiv
. 2024 Mar;
PMID: 38529501
Inducible pluripotent stem cells (iPSCs) derived from patient samples have significantly enhanced our ability to model neurological diseases. Comparative studies of dopaminergic (DA) neurons differentiated from iPSCs derived from siblings...