Barbara K Stubblefield
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Explore the profile of Barbara K Stubblefield including associated specialties, affiliations and a list of published articles.
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18
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711
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Recent Articles
1.
Poffenberger C, Inati S, Tayebi N, Stubblefield B, Ryan E, Schiffmann R, et al.
Mol Genet Metab
. 2020 Nov;
131(3):358-363.
PMID: 33183916
The clinical phenotype of Gaucher disease type 3 (GD3), a neuronopathic lysosomal storage disorder, encompasses a wide array of neurological manifestations including neuro-ophthalmological findings, developmental delay, and seizures including progressive...
2.
A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease
Aflaki E, Stubblefield B, McGlinchey R, McMahon B, Ory D, Sidransky E
Neurobiol Dis
. 2019 Nov;
134:104647.
PMID: 31669751
While astrocytes, the most abundant cells found in the brain, have many diverse functions, their role in the lysosomal storage disorder Gaucher disease (GD) has not been explored. GD, resulting...
3.
Hassan S, Lopez G, Stubblefield B, Tayebi N, Sidransky E
Mol Genet Metab
. 2018 Jul;
125(1-2):1-3.
PMID: 29980418
Autosomal resessive Mendelian disorders usually result from two inherited disease-causing mutations. However, this is not always the case. Focusing on Gaucher disease, which results from mutations in GBA1, we found...
4.
Aflaki E, Borger D, Moaven N, Stubblefield B, Rogers S, Patnaik S, et al.
J Neurosci
. 2016 Jul;
36(28):7441-52.
PMID: 27413154
Unlabelled: Among the known genetic risk factors for Parkinson disease, mutations in GBA1, the gene responsible for the lysosomal disorder Gaucher disease, are the most common. This genetic link has...
5.
Aflaki E, Stubblefield B, Maniwang E, Lopez G, Moaven N, Goldin E, et al.
Sci Transl Med
. 2014 Jun;
6(240):240ra73.
PMID: 24920659
Gaucher disease is caused by an inherited deficiency of glucocerebrosidase that manifests with storage of glycolipids in lysosomes, particularly in macrophages. Available cell lines modeling Gaucher disease do not demonstrate...
6.
Panicker L, Miller D, Park T, Patel B, Azevedo J, Awad O, et al.
Proc Natl Acad Sci U S A
. 2012 Oct;
109(44):18054-9.
PMID: 23071332
Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the acid β-glucocerebrosidase gene. To model GD, we generated human induced pluripotent stem cells (hiPSC), by reprogramming skin...
7.
Saranjam H, Chopra S, Levy H, Stubblefield B, Maniwang E, Cohen I, et al.
Eur J Hum Genet
. 2012 Jun;
21(1):115-7.
PMID: 22713811
Gaucher disease (GD) is an autosomal recessive storage disorder that most commonly results from the inheritance of one identifiable mutant glucocerebrosidase (GBA1) allele from each parent. Here, we report two...
8.
Velayati A, DePaolo J, Gupta N, Choi J, Moaven N, Westbroek W, et al.
Hum Mutat
. 2011 Jul;
32(11):1232-8.
PMID: 21796727
Lysosomal integral membrane protein type 2 (LIMP-2) is responsible for proper sorting and lysosomal targeting of glucocerebrosidase, the enzyme deficient in Gaucher disease (GD). Mutations in the gene for LIMP-2,...
9.
Velayati A, Knight M, Stubblefield B, Sidransky E, Tayebi N
J Mol Diagn
. 2011 Jun;
13(4):401-5.
PMID: 21704274
Pseudogenes, resulting from duplications of functional genes, contribute to the functional complexity of their parental genes. The glucocerebrosidase gene (GBA), located in a gene-rich region on chromosome 1q 21, is...
10.
Marugan J, Zheng W, Motabar O, Southall N, Goldin E, Westbroek W, et al.
J Med Chem
. 2011 Jan;
54(4):1033-58.
PMID: 21250698
Gaucher disease is a lysosomal storage disorder (LSD) caused by deficiency in the enzyme glucocerebrosidase (GC). Small molecule chaperones of protein folding and translocation have been proposed as a promising...