Josh C Woloszynek
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Explore the profile of Josh C Woloszynek including associated specialties, affiliations and a list of published articles.
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8
Citations
215
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Recent Articles
1.
Oppeneer T, Qi Y, Henshaw J, Larimore K, Melton A, Puolivali J, et al.
Nucleic Acid Ther
. 2025 Feb;
PMID: 39916530
Exon skipping with antisense oligonucleotides (ASOs) can correct disease-causing mutations of Duchenne muscular dystrophy (DMD) through RNA-targeted splice correction. This correction restores the reading frame and supports expression of near...
2.
Magat J, Jones S, Baridon B, Agrawal V, Wong H, Giaramita A, et al.
J Biol Chem
. 2022 Oct;
298(12):102625.
PMID: 36306823
Mucopolysaccharidosis type IIIA (MPS IIIA) is a lysosomal storage disorder caused by N-sulfoglucosamine sulfohydrolase (SGSH) deficiency. SGSH removes the sulfate from N-sulfoglucosamine residues on the nonreducing end of heparan sulfate...
3.
Babcock M, Mikulka C, Wang B, Chandriani S, Chandra S, Xu Y, et al.
Sci Rep
. 2021 Jul;
11(1):14486.
PMID: 34262084
Krabbe disease (KD) and metachromatic leukodystrophy (MLD) are caused by accumulation of the glycolipids galactosylceramide (GalCer) and sulfatide and their toxic metabolites psychosine and lysosulfatide, respectively. We discovered a potent...
4.
Li Y, Xu Y, Benitez B, Nagree M, Dearborn J, Jiang X, et al.
Proc Natl Acad Sci U S A
. 2019 Sep;
116(40):20097-20103.
PMID: 31527255
Infantile globoid cell leukodystrophy (GLD, Krabbe disease) is a fatal demyelinating disorder caused by a deficiency in the lysosomal enzyme galactosylceramidase (GALC). GALC deficiency leads to the accumulation of the...
5.
Kan S, Aoyagi-Scharber M, Le S, Vincelette J, Ohmi K, Bullens S, et al.
Proc Natl Acad Sci U S A
. 2014 Oct;
111(41):14870-5.
PMID: 25267636
Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal storage disease characterized by profound intellectual disability, dementia, and a lifespan of about two decades. The cause is...
6.
Woloszynek J, Hu Y, Pham C
J Biol Chem
. 2012 Aug;
287(41):34101-9.
PMID: 22879591
Neutrophil serine proteases play an important role in inflammation by modulating neutrophil effector functions. We have previously shown that neutrophils deficient in the serine proteases cathepsin G and neutrophil elastase...
7.
Woloszynek J, Kovacs A, Ohlemiller K, Roberts M, Sands M
J Biol Chem
. 2009 Aug;
284(43):29684-91.
PMID: 19700765
Lysosomal storage diseases (LSD) are metabolic disorders characterized by accumulation of undegraded material. The mucopolysaccharidoses (MPS) are LSDs defined by the storage of glycosaminoglycans. Previously, we hypothesized that cells affected...
8.
Woloszynek J, Coleman T, Semenkovich C, Sands M
J Biol Chem
. 2007 Oct;
282(49):35765-71.
PMID: 17911106
The mucopolysaccharidosis (MPS) type VII mouse was originally described as the adipose storage deficiency mouse because of its extreme lean phenotype of unknown etiology. Here, we show that adipose storage...
9.
Woloszynek J, Roberts M, Coleman T, Vogler C, Sly W, Semenkovich C, et al.
Biochem J
. 2004 Jan;
379(Pt 2):461-9.
PMID: 14705966
The lysosomal storage disease MPS VII (mucopolysaccharidosis type VII) is caused by a deficiency in beta-glucuronidase activity, and results in the accumulation of partially degraded glycosaminoglycans in many cell types....