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

Year Number of Results
1873 1
1881 3
1894 1
1912 1
1945 3
1946 5
1947 6
1948 12
1949 7
1950 9
1951 26
1952 21
1953 14
1954 23
1955 9
1956 30
1957 18
1958 16
1959 7
1960 2
1961 9
1962 3
1963 14
1964 34
1965 25
1966 32
1967 24
1968 31
1969 40
1970 46
1971 38
1972 44
1973 29
1974 36
1975 63
1976 38
1977 41
1978 60
1979 57
1980 71
1981 58
1982 61
1983 61
1984 71
1985 55
1986 51
1987 62
1988 49
1989 63
1990 98
1991 62
1992 74
1993 69
1994 39
1995 47
1996 62
1997 54
1998 64
1999 59
2000 68
2001 72
2002 79
2003 77
2004 81
2005 86
2006 77
2007 87
2008 112
2009 99
2010 135
2011 120
2012 133
2013 184
2014 159
2015 187
2016 165
2017 175
2018 173
2019 198
2020 218
2021 233
2022 212
2023 178
2024 69

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5,087 results

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The following term was not found in PubMed: Goteman
Page 1
Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy.
Mitra S, Chen B, Wang P, Chown EE, Dear M, Guisso DR, Mariam U, Wu J, Gumusgoz E, Minassian BA. Mitra S, et al. Dis Model Mech. 2023 Jan 1;16(1):dmm049802. doi: 10.1242/dmm.049802. Epub 2023 Jan 6. Dis Model Mech. 2023. PMID: 36511140 Free PMC article.
Deposition of overlong branched glycogen in the fatal epilepsy Lafora disease (LD) indicated involvement of the LD gene products laforin and the E3 ubiquitin ligase malin in regulating glycogen structure. Laforin binds glycogen, and LD-causing mutations disrupt this bindin …
Deposition of overlong branched glycogen in the fatal epilepsy Lafora disease (LD) indicated involvement of the LD gene products laforin and …
Paragangliome malin pendant la grossesse.
Snabboon T, Khemapech N, Lohawijarn L, Tingsarat W, Boonchaya-Anant P. Snabboon T, et al. J Obstet Gynaecol Can. 2022 Feb;44(2):117-118. doi: 10.1016/j.jogc.2020.04.010. Epub 2020 Jul 9. J Obstet Gynaecol Can. 2022. PMID: 32653252 No abstract available.
Malin restoration as proof of concept for gene therapy for Lafora disease.
Varea O, Guinovart JJ, Duran J. Varea O, et al. Brain Commun. 2022 Jun 23;4(4):fcac168. doi: 10.1093/braincomms/fcac168. eCollection 2022. Brain Commun. 2022. PMID: 35813879 Free PMC article.
In this context, it was not clear whether the restoration of a normal copy of the defective gene (either laforin or malin) would prove effective. Here we evaluated the effect of restoring malin in a malin-deficient mouse model of Lafora disease as a proof of …
In this context, it was not clear whether the restoration of a normal copy of the defective gene (either laforin or malin) would prov …
TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.
Kumarasinghe L, Xiong L, Garcia-Gimeno MA, Lazzari E, Sanz P, Meroni G. Kumarasinghe L, et al. Cells. 2021 Apr 6;10(4):820. doi: 10.3390/cells10040820. Cells. 2021. PMID: 33917450 Free PMC article. Review.
Several of them are implicated in rare genetic diseases, and mutations in TRIM32 and TRIM-like malin are associated with Limb-Girdle Muscular Dystrophy R8 and Lafora disease, respectively. ...
Several of them are implicated in rare genetic diseases, and mutations in TRIM32 and TRIM-like malin are associated with Limb-Girdle …
Lafora disease.
Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA. Turnbull J, et al. Epileptic Disord. 2016 Sep 1;18(S2):38-62. doi: 10.1684/epd.2016.0842. Epileptic Disord. 2016. PMID: 27702709 Free PMC article. Review.
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two. ...Hypotheses of LB formation remain controversial, with compel …
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin …
Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease.
Knecht E, Criado-García O, Aguado C, Gayarre J, Duran-Trio L, Garcia-Cabrero AM, Vernia S, San Millán B, Heredia M, Romá-Mateo C, Mouron S, Juana-López L, Domínguez M, Navarro C, Serratosa JM, Sanchez M, Sanz P, Bovolenta P, Rodríguez de Córdoba S. Knecht E, et al. Autophagy. 2012 Apr;8(4):701-3. doi: 10.4161/auto.19522. Epub 2012 Apr 1. Autophagy. 2012. PMID: 22361617 Free article. Review.
Lafora disease (LD), a fatal neurodegenerative disorder characterized by intracellular inclusions called Lafora bodies (LBs), is caused by recessive loss-of-function mutations in the genes encoding either laforin or malin. Previous studies suggested a role of these protein …
Lafora disease (LD), a fatal neurodegenerative disorder characterized by intracellular inclusions called Lafora bodies (LBs), is caused by r …
Lafora Disease: A Ubiquitination-Related Pathology.
García-Gimeno MA, Knecht E, Sanz P. García-Gimeno MA, et al. Cells. 2018 Jul 26;7(8):87. doi: 10.3390/cells7080087. Cells. 2018. PMID: 30050012 Free PMC article. Review.
LD is caused by mutations in the EPM2A gene, encoding the dual phosphatase laforin, or the EPM2B gene, encoding the E3-ubiquitin ligase malin. Laforin and malin form a functional complex that is involved in the regulation of glycogen synthesis. ...In this work we re …
LD is caused by mutations in the EPM2A gene, encoding the dual phosphatase laforin, or the EPM2B gene, encoding the E3-ubiquitin ligase m …
Deciphering the role of malin in the lafora progressive myoclonus epilepsy.
Romá-Mateo C, Sanz P, Gentry MS. Romá-Mateo C, et al. IUBMB Life. 2012 Oct;64(10):801-8. doi: 10.1002/iub.1072. Epub 2012 Jul 20. IUBMB Life. 2012. PMID: 22815132 Free PMC article. Review.
Some data suggest that malin forms a functional complex with laforin. This complex promotes the ubiquitination of proteins involved in glycogen metabolism and misregulation of pathways involved in this process results in Lafora body formation. In addition, recent results o …
Some data suggest that malin forms a functional complex with laforin. This complex promotes the ubiquitination of proteins involved i …
Sociotechnical safeguards for genomic data privacy.
Wan Z, Hazel JW, Clayton EW, Vorobeychik Y, Kantarcioglu M, Malin BA. Wan Z, et al. Nat Rev Genet. 2022 Jul;23(7):429-445. doi: 10.1038/s41576-022-00455-y. Epub 2022 Mar 4. Nat Rev Genet. 2022. PMID: 35246669 Free PMC article. Review.
Impaired malin expression and interaction with partner proteins in Lafora disease.
Skurat AV, Segvich DM, Contreras CJ, Hu YC, Hurley TD, DePaoli-Roach AA, Roach PJ. Skurat AV, et al. J Biol Chem. 2024 Apr 6:107271. doi: 10.1016/j.jbc.2024.107271. Online ahead of print. J Biol Chem. 2024. PMID: 38588813 Free article.
The disease is caused by mutations in either EPM2A, encoding laforin, a dual specificity phosphatase that dephosphorylates glycogen, or EMP2B, encoding malin, an E3-ubiquitin ligase. While glycogen is a widely accepted laforin substrate, substrates for malin have be …
The disease is caused by mutations in either EPM2A, encoding laforin, a dual specificity phosphatase that dephosphorylates glycogen, or EMP2 …
5,087 results