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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1964 1
1966 1
1972 1
1973 1
1975 1
1976 5
1977 6
1978 4
1979 4
1980 5
1981 4
1982 2
1983 13
1984 3
1985 4
1986 4
1987 1
1988 2
1989 6
1990 7
1991 6
1992 6
1993 7
1994 3
1995 8
1996 7
1997 8
1998 10
1999 10
2000 18
2001 13
2002 15
2003 25
2004 25
2005 34
2006 39
2007 42
2008 56
2009 65
2010 88
2011 83
2012 87
2013 85
2014 83
2015 86
2016 76
2017 70
2018 74
2019 73
2020 66
2021 77
2022 61
2023 59
2024 26

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1,391 results

Results by year

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Page 1
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
Nitschke S, Sullivan MA, Mitra S, Marchioni CR, Lee JPY, Smith BH, Ahonen S, Wu J, Chown EE, Wang P, Petković S, Zhao X, DiGiovanni LF, Perri AM, Israelian L, Grossman TR, Kordasiewicz H, Vilaplana F, Iwai K, Nitschke F, Minassian BA. Nitschke S, et al. Brain. 2022 Jul 29;145(7):2361-2377. doi: 10.1093/brain/awac017. Brain. 2022. PMID: 35084461 Free PMC article.
In summary, the fundamental glycogen pathology of RBCK1 deficiency recapitulates that of malin-deficient Lafora disease. ...Finally, we exploit the portion of the basic glycogen pathology that is common to adult polyglucosan body disease, both forms of …
In summary, the fundamental glycogen pathology of RBCK1 deficiency recapitulates that of malin-deficient Lafora disease …
Metabolic myopathies.
DiMauro S, Garone C, Naini A. DiMauro S, et al. Curr Rheumatol Rep. 2010 Oct;12(5):386-93. doi: 10.1007/s11926-010-0119-9. Curr Rheumatol Rep. 2010. PMID: 20676808
We consider recent developments in disorders affecting three areas of metabolism: glycogen, fatty acids, and the mitochondrial respiratory chain. Among the glycogenoses, new attention has been directed to defects of glycogen synthesis resulting in absence rather tha …
We consider recent developments in disorders affecting three areas of metabolism: glycogen, fatty acids, and the mitochondrial respir …
Asymptomatic hepatic glycogen-synthetase deficiency.
Aynsley-Green A, Williamson DH, Gitzelmann R. Aynsley-Green A, et al. Lancet. 1978 Jan 21;1(8056):147-8. doi: 10.1016/s0140-6736(78)90442-7. Lancet. 1978. PMID: 87575 No abstract available.
The ground state of embryonic stem cell self-renewal.
Ying QL, Wray J, Nichols J, Batlle-Morera L, Doble B, Woodgett J, Cohen P, Smith A. Ying QL, et al. Nature. 2008 May 22;453(7194):519-23. doi: 10.1038/nature06968. Nature. 2008. PMID: 18497825 Free PMC article.
Self-renewal is enabled by the elimination of differentiation-inducing signalling from mitogen-activated protein kinase. Additional inhibition of glycogen synthase kinase 3 consolidates biosynthetic capacity and suppresses residual differentiation. ...
Self-renewal is enabled by the elimination of differentiation-inducing signalling from mitogen-activated protein kinase. Additional inhibiti …
High-throughput Oligopaint screen identifies druggable 3D genome regulators.
Park DS, Nguyen SC, Isenhart R, Shah PP, Kim W, Barnett RJ, Chandra A, Luppino JM, Harke J, Wai M, Walsh PJ, Abdill RJ, Yang R, Lan Y, Yoon S, Yunker R, Kanemaki MT, Vahedi G, Phillips-Cremins JE, Jain R, Joyce EF. Park DS, et al. Nature. 2023 Aug;620(7972):209-217. doi: 10.1038/s41586-023-06340-w. Epub 2023 Jul 12. Nature. 2023. PMID: 37438531
Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.
Testoni G, Olmeda B, Duran J, López-Rodríguez E, Aguilera M, Hernández-Álvarez MI, Prats N, Pérez-Gil J, Guinovart JJ. Testoni G, et al. Hum Mol Genet. 2021 Jan 6;29(21):3554-3565. doi: 10.1093/hmg/ddaa249. Hum Mol Genet. 2021. PMID: 33219378
The lungs of glycogenin-deficient embryos and P0 mice have a lower glycogen content than that of wild-type counterparts. ...Our findings confirm that glycogen deficiency in lungs can cause respiratory distress syndrome and suggest that mutations in gly …
The lungs of glycogenin-deficient embryos and P0 mice have a lower glycogen content than that of wild-type counterparts. ...Ou …
Hepatic glycogen synthetase deficiency. Further studies on a family.
Dykes JR, Spencer-Peet J. Dykes JR, et al. Arch Dis Child. 1972 Aug;47(254):558-63. doi: 10.1136/adc.47.254.558. Arch Dis Child. 1972. PMID: 4505568 Free PMC article.
A family with hepatic glycogen synthetase deficiency originally studied in 1962, was restudied 7 years later. ...An increase in blood lactate concentrations after oral administration of glucose, and more particularly, of galactose, is a useful test in the dif …
A family with hepatic glycogen synthetase deficiency originally studied in 1962, was restudied 7 years later. ...An inc …
Structure and Regulation of Glycogen Synthase in the Brain.
Pederson BA. Pederson BA. Adv Neurobiol. 2019;23:83-123. doi: 10.1007/978-3-030-27480-1_3. Adv Neurobiol. 2019. PMID: 31667806 Review.
Brain glycogen synthesis is a regulated, multi-step process that begins with glucose transport across the blood brain barrier and culminates with the actions of glycogen synthase and the glycogen branching enzyme to elongate glucose chains and introduc …
Brain glycogen synthesis is a regulated, multi-step process that begins with glucose transport across the blood brain barrier and cul …
[Hepatic glycogen synthetase deficiency or glycogen storage disease-zero. Mild phenotype with partial enzymatic defect].
de Kremer RD, de Capra AP, de Boldini CD, Hliba E, Givogri I. de Kremer RD, et al. Medicina (B Aires). 1990;50(4):299-309. Medicina (B Aires). 1990. PMID: 2130223 Spanish.
Since the original description 26 years ago, of the hepatic glycogen synthetase deficiency, only one more case was reported in 1977. ...The clinical pattern mainly without hypoglycemia, convulsions and/or mental retardation and a normal height and body mass d …
Since the original description 26 years ago, of the hepatic glycogen synthetase deficiency, only one more case was repo …
Hepatic glycogen synthetase deficiency.
[No authors listed] [No authors listed] Arch Dis Child. 1973 Feb;48(2):164-5. Arch Dis Child. 1973. PMID: 4632229 Free PMC article. No abstract available.
1,391 results