Brian W Bigger
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Explore the profile of Brian W Bigger including associated specialties, affiliations and a list of published articles.
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69
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1714
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Recent Articles
1.
Ellison S, Buckland K, Learmonth Y, Day V, Kalra S, Howe L, et al.
Mol Ther Methods Clin Dev
. 2024 Jul;
32(2):101271.
PMID: 38946936
Hematopoietic stem cell gene therapy (HSCGT) is a promising therapeutic strategy for the treatment of neurodegenerative, metabolic disorders. The approach involves the introduction of a missing gene into patients' own...
2.
Systemic immune challenge exacerbates neurodegeneration in a model of neurological lysosomal disease
Mandolfo O, Parker H, Aguado E, Learmonth Y, Liao A, OLeary C, et al.
EMBO Mol Med
. 2024 Jun;
16(7):1579-1602.
PMID: 38890537
Mucopolysaccharidosis type IIIA (MPS IIIA) is a rare paediatric lysosomal storage disorder, caused by the progressive accumulation of heparan sulphate, resulting in neurocognitive decline and behavioural abnormalities. Anecdotal reports from...
3.
Wu T, Brown H, Church H, Kershaw C, Hutton R, Egerton C, et al.
Mol Genet Metab
. 2024 Mar;
142(1):108349.
PMID: 38458124
Metachromatic leukodystrophy (MLD) is a devastating rare neurodegenerative disease. Typically, loss of motor and cognitive skills precedes early death. The disease is characterised by deficient lysosomal arylsulphatase A (ARSA) activity...
4.
Ellison S, Liao A, Gleitz H, Parker H, Booth L, Robinson J, et al.
Mol Ther Methods Clin Dev
. 2023 Nov;
31:101127.
PMID: 37920237
Mucopolysaccharidosis type II (MPSII) is a pediatric lysosomal storage disease caused by deficiencies in the IDS (iduronate-2-sulfatase) gene resulting in accumulation of glycosaminoglycans, multisystem disease, and profound neurodegeneration in severe...
5.
Andreou T, Ishikawa-Learmonth Y, Bigger B
Mol Genet Metab
. 2023 Jul;
139(4):107651.
PMID: 37473537
Mucopolysaccharidosis Type I (MPSI) is a rare inherited lysosomal storage disease that arises due to mutations in the IDUA gene. Defective alpha-L-iduronidase (IDUA) enzyme is unable to break down glucosaminoglycans...
6.
Mandolfo O, Liao A, Singh E, OLeary C, Holley R, Bigger B
Hum Gene Ther
. 2023 Jul;
35(7-8):243-255.
PMID: 37427450
Mucopolysaccharidosis type II (MPSII) is a rare pediatric X-linked lysosomal storage disease, caused by heterogeneous mutations in the iduronate-2-sulfatase () gene, which result in accumulation of heparan sulfate (HS) and...
7.
OLeary C, Forte G, Mitchell N, Youshani A, Dyer A, Wellby M, et al.
J Transl Med
. 2023 Jul;
21(1):437.
PMID: 37407981
Background: Mucopolysaccharidosis IIIC (MPSIIIC) is one of four Sanfilippo diseases sharing clinical symptoms of severe cognitive decline and shortened lifespan. The missing enzyme, heparan sulfate acetyl-CoA: α-glucosaminide-N-acetyltransferase (HGSNAT), is bound...
8.
Wood S, Chaudrhy A, Ellison S, Searle R, Burgod C, Tehseen G, et al.
Hum Gene Ther
. 2023 May;
35(7-8):232-242.
PMID: 37212263
Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disease caused by a mutation in the gene, resulting in deficiency of the enzyme iduronate-2-sulfatase (IDS) causing heparan sulfate (HS) and...
9.
Mandolfo O, Bigger B
Neural Regen Res
. 2023 Mar;
18(9):1954-1955.
PMID: 36926718
No abstract available.
10.
Wood S, Bigger B
Front Mol Biosci
. 2022 Sep;
9:965089.
PMID: 36172050
Mucopolysaccharide diseases are a group of paediatric inherited lysosomal storage diseases that are caused by enzyme deficiencies, leading to a build-up of glycosaminoglycans (GAGs) throughout the body. Patients have severely...