Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism

Jun Wu; Or Kakhlon; Miguel Weil; Alexander Lossos; Berge A Minassian

doi:10.1038/s44321-024-00063-9

Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism

EMBO Mol Med. 2024 May;16(5):1047-1050. doi: 10.1038/s44321-024-00063-9. Epub 2024 Apr 2.

Authors

Jun Wu¹, Or Kakhlon², Miguel Weil³, Alexander Lossos⁴, Berge A Minassian⁵

Affiliations

¹ Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.
² Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah Hebrew University Medical Center, Jerusalem, 9112001, Israel.
³ Laboratory for Personalized Medicine and Neurodegenerative Diseases, The Shmunis School of Biomedicine and Cancer Research, The George S. Wise Faculty for Life Sciences, Sagol School of Neurosciences, Tel Aviv University, Tel Aviv, Israel.
⁴ Departments of Oncology and Neurology, Leslie and Michael Gaffin Center for Neuro-Oncology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
⁵ Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA. Berge.Minassian@utsouthwestern.edu.

Abstract

In this Correspondence, B. Minassian and colleagues report that GHF201, an autophagy activator shown to diminish abnormal glycogen aggregates in a mouse model of Adult Polyglucosan Body Disease, fails to reduce such accumulations in a mouse model of Lafora disease.

Publication types

Letter
Comment

MeSH terms

Animals
Autophagy*
Epilepsy / metabolism
Glycogen* / metabolism
Humans
Lafora Disease* / genetics
Lafora Disease* / metabolism
Mice

Abstract

Publication types

MeSH terms

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