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Brian Bigger

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Articles 24
Citations 305
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Recent Articles
1.
Wiesinger A, Bigger B, Giugliani R, Lampe C, Scarpa M, Moser T, et al.
J Inherit Metab Dis . 2024 Nov; 48(1):e12816. PMID: 39572375
Mucopolysaccharidosis (MPS) encompasses a group of genetic lysosomal storage disorders, linked to reduced life expectancy and a significant lack of effective treatment options. Immunomodulatory drugs could have the potential to...
2.
Celik B, Rintz E, Sansanwal N, Khan S, Bigger B, Tomatsu S
Hum Gene Ther . 2024 Oct; 35(21-22):917-937. PMID: 39446675
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disease caused by a mutation in the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) gene resulting in progressive systemic skeletal dysplasia. There is currently no effective treatment...
3.
Mandolfo O, Parker H, Usman A, Learmonth Y, Holley R, MacDonald A, et al.
Mol Genet Metab . 2024 Jul; 143(1-2):108533. PMID: 39059269
Mucopolysaccharidosis Type IIIA (MPSIIIA) is a rare inherited lysosomal storage disease caused by mutations in the SGSH gene. This genetic variation results in the deficiency of the N-sulfoglucosamine sulfohydrolase enzyme,...
4.
Pickard A, Garva R, Adamson A, Calverley B, Hoyle A, Hayward C, et al.
bioRxiv . 2024 May; PMID: 38766096
Collagen fibrils are the primary supporting scaffold of vertebrate tissues but how they are assembled is unclear. Here, using CRISPR-tagging of type I collagen and SILAC labelling, we elucidate the...
5.
Xu T, Heon-Roberts R, Moore T, Dubot P, Pan X, Guo T, et al.
bioRxiv . 2024 May; PMID: 38712143
Graphical Abstract:
6.
Suleman S, Fawaz S, Roberts T, Ellison S, Bigger B, Themis M
J Virol Methods . 2024 Jan; 325:114884. PMID: 38218417
HIV-1 based lentiviral viruses are considered powerful and versatile gene therapy vectors to deliver therapeutic genes to patients with hereditary or acquired diseases. These vectors can efficiently transduce a variety...
7.
Wiesinger A, Bigger B, Giugliani R, Lampe C, Scarpa M, Moser T, et al.
Pharmaceutics . 2023 Nov; 15(11). PMID: 38004626
The journal retracts the article, An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis [...].
8.
Wiesinger A, Bigger B, Giugliani R, Lampe C, Scarpa M, Moser T, et al.
Pharmaceutics . 2023 May; 15(5). PMID: 37242808
Mucopolysaccharidosis (MPS) is a group of rare metabolic diseases associated with reduced life expectancy and a substantial unmet medical need. Immunomodulatory drugs could be a relevant treatment approach for MPS...
9.
Wiesinger A, Bigger B, Giugliani R, Scarpa M, Moser T, Lampe C, et al.
Front Pharmacol . 2022 Jun; 13:863667. PMID: 35645812
Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases (LSDs), characterized by the accumulation of glycosaminoglycans (GAGs). GAG storage-induced inflammatory processes are a driver of cytopathology in MPS and pharmacological...
10.
Mandolfo O, Parker H, Bigger B
Int J Mol Sci . 2022 Feb; 23(4). PMID: 35216110
Mucopolysaccharidoses are rare paediatric lysosomal storage disorders, characterised by accumulation of glycosaminoglycans within lysosomes. This is caused by deficiencies in lysosomal enzymes involved in degradation of these molecules. Dependent on...