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The following term was not found in PubMed: Goteman
Page 1
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.
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 May;300(5):107271. doi: 10.1016/j.jbc.2024.107271. Epub 2024 Apr 7. J Biol Chem. 2024. PMID: 38588813 Free PMC 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 …
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. Founder effects and recurrent mutations are common, and mostly …
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin …
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 …
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 …
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.
In addition, recent results obtained from both cell culture and LD mouse models have highlighted a role of the laforin-malin complex in the regulation of endoplasmic reticulum-stress and protein clearance pathways. ...Herein, we review the latest results concerning the rol …
In addition, recent results obtained from both cell culture and LD mouse models have highlighted a role of the laforin-malin complex …
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 …
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.
5,296 results