Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course | Zendy

Alessandro Esposito | Zendy; Antonio Falace | Zendy; Matias Wagner | Zendy; Moran Gal | Zendy; Davide Mei | Zendy; Valerio Conti | Zendy; Tiziana Pisano | Zendy; Davide Aprile | Zendy; Maria Sabina Cerullo | Zendy; Antonio De Fusco | Zendy; Silvia Giovedı̀ | Zendy; Annette Seibt | Zendy; Daniella Magen | Zendy; Tilman Polster | Zendy; Ayelet Eran | Zendy; Sarah L. Stenton | Zendy; Chiara Fiorillo | Zendy; Sarit Ravid | Zendy; Ertan Mayatepek | Zendy; Hava Hafner | Zendy; Saskia B. Wortmann | Zendy; Erez Y. Leva | Zendy; Carla Marini | Zendy; Hanna Mandel | Zendy; Fabio Benfenati | Zendy; Felix Distelmaier | Zendy; Anna Fassio | Zendy; Renzo Guerrini | Zendy

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Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

Author(s) -

Alessandro Esposito,

Antonio Falace,

Matias Wagner,

Moran Gal,

Davide Mei,

Valerio Conti,

Tiziana Pisano,

Davide Aprile,

Maria Sabina Cerullo,

Antonio De Fusco,

Silvia Giovedı̀,

Annette Seibt,

Daniella Magen,

Tilman Polster,

Ayelet Eran,

Sarah L. Stenton,

Chiara Fiorillo,

Sarit Ravid,

Ertan Mayatepek,

Hava Hafner,

Saskia B. Wortmann,

Erez Y. Leva,

Carla Marini,

Hanna Mandel,

Fabio Benfenati,

Felix Distelmaier,

Anna Fassio,

Renzo Guerrini

Publication year - 2019

Publication title -

brain

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.142

H-Index - 336

eISSN - 1460-2156

pISSN - 0006-8950

DOI - 10.1093/brain/awz326

Subject(s) - missense mutation , encephalopathy , corpus callosum , compound heterozygosity , medicine , nonsense mutation , epilepsy , white matter , leukoencephalopathy , pediatrics , psychology , neuroscience , mutation , biology , magnetic resonance imaging , genetics , gene , disease , radiology

Esposito et al. identify biallelic loss-of-function mutations in DMXL2, encoding a v-ATPase regulatory protein, in three sibling pairs exhibiting Ohtahara syndrome with a progressive course. Patient-derived fibroblasts and Dmxl2-silenced mouse hippocampal neurons show defective lysosomal function and autophagy, resulting in the latter in impaired neuronal development and synapse formation.

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