Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Carmignac, Virginie; Mignot, Cyril; Blanchard, Emmanuelle; Kuentz, Paul; Aubriot-Lorton, Marie-Hélène; Parker, Victoria; Sorlin, Arthur; Fraïtag, Sylvie; Courcet, Jean-Benoît; Duffourd, Yannis; Knox, Rachel; Polubothu, Satyamaanasa; Boland, Anne; Olaso, Robert; Délépine, Marc; Darmency, Véronique; Riachi, M.; Quēlin, Chloé; Rollier, Paul; Goujon, Louise; Grotto, Sarah; Capri, Yline; Jacquemont, Marie‐Line; Odent, Sylvie; Amram, Daniel; Chevarin, Martin; Vincent‐Delorme, Catherine; Catteau, B.; Guibaud, Laurent; Arzimanoglou, Alexis; Keddar, Malika; Sarret, Catherine; Callier, Patrick; Bessis, Didier; Geneviève, David; Deleuze, Jean‐François; Thauvin, Christel; Semple, Robert K.; Philippe, Christophe; Rivière, Jean‐Baptiste; Kinsler, Veronica A.; Faivre, Laurence; Vabres, P.

doi:10.1038/s41436-021-01217-7

Cited by 2 publications

(4 citation statements)

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“…It is also conceivable that somatic LKB1 mosaicism could explain LKB1 signaling deficiencies in clinical settings. This has been reported for mTOR mutations associated with pigmentation mosaicism 82,83 . Interestingly, somatic mosaicism for LKB1 mutations have been recently observed in Peutz‐Jeghers patients 102,103 .…”

Section: Potential Contribution Of Lkb1 Signaling To Neural Crest Dis...mentioning

confidence: 61%

“…or other neurodevelopmental disorders, such as developmental delay or epilepsy. 47,82,83 However, the possible deregulation of mTOR by AMPK in this context has not been established.…”

Section: Recruitment Of Mtormentioning

confidence: 99%

“…This has been reported for mTOR mutations associated with pigmentation mosaicism. 82,83 Interestingly, somatic mosaicism for LKB1 mutations have been recently observed in Peutz-Jeghers patients. 102,103 These new results support the possible causative contributions of LKB1 deregulation in neurocristopathies.…”

Section: Neural Crest Syndromesmentioning

confidence: 99%

“…Deficient mTOR activity has been clearly shown to be associated with pigmentary mosaicism in human patients, often along with defects of other neural crest derivatives (craniofacial dysmorphy, Waardenburg syndrome, Hirschsprung disease, etc.) or other neurodevelopmental disorders, such as developmental delay or epilepsy 47,82,83 . However, the possible deregulation of mTOR by AMPK in this context has not been established.…”

Section: Lkb1‐dependent Molecular Mechanisms In Nccmentioning

confidence: 99%

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Functions of LKB1 in neural crest development: The story unfolds

Thibert

Lucas

Billaud

et al. 2023

Developmental Dynamics

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Neural crest cells (NCCs) are highly motile, multipotent, embryonic cells that delaminate from the dorsal edges of the neural tube. NCCs follow stereotypical long‐range migratory pathways to reach target organs during development, where they give rise to multiple derivatives. The identification of reservoirs of neural crest stem cells that persist to adulthood has recently aroused renewed interest in the biology of NCCs. In this context, several recent studies have demonstrated the essential role of the metabolic kinase LKB1 in NCC establishment. This review surveys how LKB1 governs the formation and maintenance of several neural crest derivatives, including facial bones, melanocytes, Schwann cells, and the enteric nervous system. We also detail the underlying molecular mechanisms that involve downstream effectors of LKB1, in particular the contribution of the AMPK‐mTOR signaling pathway to both polarity and metabolic processes. Collectively, these recent discoveries open promising perspectives for new therapeutic applications for the treatment of neural crest disorders.

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Section: Potential Contribution Of Lkb1 Signaling To Neural Crest Dis...mentioning

confidence: 61%

“…or other neurodevelopmental disorders, such as developmental delay or epilepsy. 47,82,83 However, the possible deregulation of mTOR by AMPK in this context has not been established.…”

Section: Recruitment Of Mtormentioning

confidence: 99%