Glycogen Storage Diseases and Myoclonus

Moving in Stem cell research, Frontiers in Genetics, bioRxiv, Journal of Experimental Botany, medRxiv, Nature Plants and The lancet. Gastroenterology & hepatology.

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Papers in 60 days: 14

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Double mutants of granule-bound starch synthases, GBSSI and GBSSII, revealed their roles and the existence of amylose-like branched α-glucans in rice.
Journal of Experimental Botany · 21 Oct 2026 · Journal Article
Double mutants of rice GBSS enzymes reveal amylose-like branched α-glucans are synthesized by other enzymes besides GBSSI and GBSSII.
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https://jclub.com.au/a/42906146
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Generation of induced pluripotent stem cell lines TRNDi045-A-40 and TRNDi045-A-41 modeling mucopolysaccharidosis type IIIA and type I from parental KOLF2.1J.
Stem cell research · 9 Oct 2026 · Journal Article
Two human iPSC lines modeling mucopolysaccharidosis types IIIA and I with specific pathogenic variants were generated from KOLF2.1J cells.
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https://jclub.com.au/a/42868744
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Neuronal loss of Galnt2 in Mice Impairs O-glycosylation and Recapitulates Neurological Features of GALNT2-CDG
bioRxiv · 6 Oct 2026 · Preprint
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https://jclub.com.au/a/10.1101/2024.09.30.615951
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Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study.
Frontiers in Genetics · 5 Oct 2026 · Journal Article
Sixty percent of individuals with Fabry disease in Brazil, Argentina, and Colombia have GLA variants that may respond to migalastat treatment.
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https://jclub.com.au/a/42898486
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Generation and characterization of a human iPSC line (XACHi022-A) derived from an asymptomatic carrier of the GAA c.2051C > A (p.P684Q) variant.
Stem cell research · 1 Oct 2026 · Journal Article
A human iPSC line from an asymptomatic woman carrying the GAA c.2051C>A (p.P684Q) variant was successfully generated, exhibiting typical stem cell features and differentiation capacity.
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https://jclub.com.au/a/42832899
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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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Generation of two induced pluripotent stem cell lines from Fabry disease patients carrying GLA mutations.
Stem cell research · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/42648120
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Establishment of a human induced pluripotent stem cell line (PNUSCRi003-A) from a patient with Gaucher disease carrying compound heterozygous p.Arg87Trp and p.Arg296Gln variants in the GBA1 gene.
Stem cell research · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/42526182
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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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Generation of diseased and isogenic control human induced pluripotent stem cell lines MHHi043-A & MHHi043-B from a female Fabry disease patient carrying c.644A > G missense mutation.
Stem cell research · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/42628136
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Generation of a human-induced pluripotent stem cell (hiPSC) line as a cellular model of Fabry disease from a patient carrying the p.A143T variant in the GLA gene (AOUMEYi005-A).
Stem cell research · 1 Sept 2026 · Case Reports
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https://jclub.com.au/a/42462546
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Generation of human induced pluripotent stem cell line MHHi040-A from a female Fabry disease patient carrying c.644A>G missense mutation.
Stem cell research · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/42492409
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Col-0 genetic divergence.
Nature Plants · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/42711405
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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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