Research area · week to 3 Oct 2026

Lysosomal Storage Disorders Research

Moving in bioRxiv, Frontiers in Genetics, medRxiv, Cell Reports, eLife, EMBO Journal, Molecular therapy. Nucleic acids, Nature Chemical Biology.

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Latest in Lysosomal Storage Disorders Research

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Lysosomal multi-omics reveals altered sphingolipid catabolism associated with lysosomal dysfunction in the aging brain.
Cell Reports · 1 Oct 2026 · Journal Article
Lysosomal lipid and protein changes in the aging brain show increased myelin components and disrupted sphingolipid breakdown, especially in microglia, indicating dysfunction.
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https://jclub.com.au/a/42826099
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Lysosomal microautophagic pathway links proteostasis to protein aggregation disease
bioRxiv · 29 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2020.08.11.245688
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Understanding the CLN2 Disease Journey: A Survey of Caregiver Experiences, Treatment Burden, and Treatment Perspectives
medRxiv · 27 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.05.31.26354557
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Lipids regulate export of lysosomal enzymes from the endoplasmic reticulum.
Proceedings of the National Academy of Sciences · 22 Sept 2026 · Journal Article
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https://jclub.com.au/a/42752232
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Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity.
eLife · 22 Sept 2026 · Journal Article
Pathogenic O-GlcNAc dyshomeostasis linked to neurodevelopmental defects and behavioral abnormalities in a rodent model of OGT-ID.
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https://jclub.com.au/a/42770280
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Sex-stratified analysis of the potential association between PGLYRP2 rs892145 variant and Parkinson's disease across diverse ancestral populations
medRxiv · 15 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.07.23.25331993
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Effects of Deficient Glycosylation and Deglycosylation on Sperm Condition in Zebrafish (Danio rerio)
bioRxiv · 12 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.07.01.735899
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Metabolic compensation via gluconeogenesis explains the non-essentiality of glycogen phosphorylase as an insecticidal target in Plutella xylostella
bioRxiv · 8 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.03.03.709364
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Amplified genome editing by in vivo editor production
bioRxiv · 7 Sept 2026 · Preprint
NANITE strategy quadruples genome editing efficiency in cells and triples liver editing levels in mice by enabling enzyme transfer between cells.
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https://jclub.com.au/a/10.64898/2026.01.13.699115
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Whole-organism screening in a zebrafish model of CLN2 disease identifies pregnenolone as a modulator of lysosomal functions with anti-epileptic properties
bioRxiv · 3 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.08.26.670480
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Vps1 drives membrane constriction and fission necessary for endosomal protein sorting.
EMBO Journal · 1 Sept 2026 · Journal Article
Vps1 drives membrane constriction and fission for endosomal protein sorting, with mutants impairing GTP hydrolysis failing to achieve fission and causing cargo mis-sorting.
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https://jclub.com.au/a/42477131
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Glycogen storage disease type VII (Tarui disease): a case report presenting a PFKM variant previously described only in canine models.
Frontiers in Genetics · 1 Sept 2026 · Case Reports
A homozygous PFKM variant previously seen only in dogs causes glycogen storage disease type VII in an Italian woman, impairing muscle metabolism and causing clinical symptoms.
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https://jclub.com.au/a/42745849
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Structures of ALG3/9/12 reveal the assembly logic of the N-glycan oligomannose core.
Nature Chemical Biology · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/41807832
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A decade of transformation in MASLD: from nomenclature to novel therapies.
The lancet. Gastroenterology & hepatology · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/42556358
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A neuronal CRISPRi screen identifies PQLC2 as a lysosomal pH regulator controlling tau homeostasis
bioRxiv · 31 Aug 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.08.25.747102
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Gene therapy for hereditary hematological disorders: From clinical breakthroughs to future horizons.
Molecular therapy. Nucleic acids · 27 Aug 2026 · Review
Gene therapy has achieved clinical breakthroughs for hereditary hematological disorders, with approved treatments for hemoglobinopathies and hemophilia, moving toward curative potential.
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https://jclub.com.au/a/42761173
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Lipids Regulate Export of Lysosomal Enzymes from the Endoplasmic Reticulum
bioRxiv · 26 Aug 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.04.16.719038
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Pedigree Case Report of adult-onset phenotypically heterogeneous Krabbe disease.
Frontiers in Genetics · 24 Aug 2026 · Case Reports
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https://jclub.com.au/a/42703459
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