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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 186
2016 165
2017 175
2018 173
2019 198
2020 217
2021 233
2022 210
2023 129

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4,984 results

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Filters applied: . Clear all The following term was not found in PubMed: Goteman
Page 1
Lafora disease - from pathogenesis to treatment strategies.
Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA. Nitschke F, et al. Nat Rev Neurol. 2018 Oct;14(10):606-617. doi: 10.1038/s41582-018-0057-0. Nat Rev Neurol. 2018. PMID: 30143794 Free PMC article. Review.
The integration of current knowledge on the function of laforin-malin as an interacting complex suggests that laforin recruits malin to parts of glycogen molecules where overly long glucose chains are forming, so as to counteract further chain extension. In the abse …
The integration of current knowledge on the function of laforin-malin as an interacting complex suggests that laforin recruits mal …
Lafora disease: Current biology and therapeutic approaches.
Mitra S, Gumusgoz E, Minassian BA. Mitra S, et al. Rev Neurol (Paris). 2022 Apr;178(4):315-325. doi: 10.1016/j.neurol.2021.06.006. Epub 2021 Jul 21. Rev Neurol (Paris). 2022. PMID: 34301405 Free PMC article. Review.
LD is caused by mutations in the gene encoding the glycogen phosphatase laforin or the gene coding for the laforin interacting partner ubiquitin E3 ligase malin. The role of the malin-laforin complex in regulating glycogen structure remains with full of gaps. ...Muc …
LD is caused by mutations in the gene encoding the glycogen phosphatase laforin or the gene coding for the laforin interacting partner ubiqu …
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 …
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 …
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 …
Diabetes.
Malins JM. Malins JM. Lancet. 1974 Dec 7;2(7893):1367-8. doi: 10.1016/s0140-6736(74)92231-4. Lancet. 1974. PMID: 4143326 No abstract available.
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 …
Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level.
Romá-Mateo C, Moreno D, Vernia S, Rubio T, Bridges TM, Gentry MS, Sanz P. Romá-Mateo C, et al. BMC Evol Biol. 2011 Jul 28;11:225. doi: 10.1186/1471-2148-11-225. BMC Evol Biol. 2011. PMID: 21798009 Free PMC article.
In order to perform its function, malin forms a functional complex with laforin, a glucan phosphatase that facilitates targeting of malin to its corresponding substrates. ...However, TRIM32-specific substrates were not reciprocally ubiquitinated by the laforin-ma …
In order to perform its function, malin forms a functional complex with laforin, a glucan phosphatase that facilitates targeting of …
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 …
Malin regulates Wnt signaling pathway through degradation of dishevelled2.
Sharma J, Mulherkar S, Mukherjee D, Jana NR. Sharma J, et al. J Biol Chem. 2012 Feb 24;287(9):6830-9. doi: 10.1074/jbc.M111.315135. Epub 2012 Jan 5. J Biol Chem. 2012. PMID: 22223637 Free PMC article.
Partial knockdown of malin significantly increases the level of dishevelled2 and up-regulates Wnt signaling. Several malin mutants are found to be ineffective in degrading dishevelled2 and regulating the Wnt pathway. ...
Partial knockdown of malin significantly increases the level of dishevelled2 and up-regulates Wnt signaling. Several malin mut …
4,984 results