UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking

Rémi Duclaux-Loras; Corinne Lebreton; Jérémy Berthelet; Fabienne Charbit-Henrion; Ophelie Nicolle; de Courtils C Revenu; Stephanie Waich; Taras Valovka; Anis Khiat; Marion Rabant; Caroline Racine; Ida Chiara Guerrera; Júlia Baptista; Maxime M. Mahe; Michael W. Hess; Béatrice Durel; Nathalie Lefort; Céline Banal; Mélanie Parisot; Cecile Talbotec; Florence Lacaille; Emmanuelle Ecochard-Dugelay; Arzu Meltem Demir; Georg F. Vogel; Laurence Faivre; Astor Rodrigues; Darren Fowler; Andreas R. Janecke; Thomas Müller; Lukas A. Huber; Fernando Rodrigues-Lima; Frank M. Ruemmele; Holm H. Uhlig; Bene F Del; Grégoire Michaux; Nadine Cerf-Bensussan; Marianna Parlato

doi:10.1172/jci154997

UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking

Rémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, Fabienne Charbit-Henrion, Ophelie Nicolle, de Courtils C Revenu, Stephanie Waich, Taras Valovka, Anis Khiat, Marion Rabant, Caroline Racine, Ida Chiara Guerrera, Júlia Baptista, Maxime M. Mahe, Michael W. Hess, Béatrice Durel, Nathalie Lefort, Céline Banal, Mélanie Parisot, Cecile TalbotecFlorence Lacaille, Emmanuelle Ecochard-Dugelay, Arzu Meltem Demir, Georg F. Vogel, Laurence Faivre, Astor Rodrigues, Darren Fowler, Andreas R. Janecke, Thomas Müller, Lukas A. Huber, Fernando Rodrigues-Lima, Frank M. Ruemmele, Holm H. Uhlig, Bene F Del, Grégoire Michaux, Nadine Cerf-Bensussan^*, Marianna Parlato^*

^*Corresponding author for this work

Peninsula Medical School

Research output: Contribution to journal › Article › peer-review

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Original language	English
Number of pages	0
Journal	Journal of Clinical Investigation
Volume	132
Issue number	10
Early online date	16 May 2022
DOIs	https://doi.org/10.1172/jci154997
Publication status	Published - 16 May 2022

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10.1172/jci154997

2022 UNC45A deficiency

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Duclaux-Loras, R., Lebreton, C., Berthelet, J., Charbit-Henrion, F., Nicolle, O., Revenu, D. C. C., Waich, S., Valovka, T., Khiat, A., Rabant, M., Racine, C., Guerrera, I. C., Baptista, J., Mahe, M. M., Hess, M. W., Durel, B., Lefort, N., Banal, C., Parisot, M., ... Parlato, M. (2022). UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking. Journal of Clinical Investigation, 132(10). https://doi.org/10.1172/jci154997

@article{de90d548f490447482207cfcfc1cf763,

title = "UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking",

author = "R{\'e}mi Duclaux-Loras and Corinne Lebreton and J{\'e}r{\'e}my Berthelet and Fabienne Charbit-Henrion and Ophelie Nicolle and Revenu, {de Courtils C} and Stephanie Waich and Taras Valovka and Anis Khiat and Marion Rabant and Caroline Racine and Guerrera, {Ida Chiara} and J{\'u}lia Baptista and Mahe, {Maxime M.} and Hess, {Michael W.} and B{\'e}atrice Durel and Nathalie Lefort and C{\'e}line Banal and M{\'e}lanie Parisot and Cecile Talbotec and Florence Lacaille and Emmanuelle Ecochard-Dugelay and Demir, {Arzu Meltem} and Vogel, {Georg F.} and Laurence Faivre and Astor Rodrigues and Darren Fowler and Janecke, {Andreas R.} and Thomas M{\"u}ller and Huber, {Lukas A.} and Fernando Rodrigues-Lima and Ruemmele, {Frank M.} and Uhlig, {Holm H.} and Del, {Bene F} and Gr{\'e}goire Michaux and Nadine Cerf-Bensussan and Marianna Parlato",

year = "2022",

month = may,

day = "16",

doi = "10.1172/jci154997",

language = "English",

volume = "132",

journal = "Journal of Clinical Investigation",

issn = "0021-9738",

publisher = "The American Society for Clinical Investigation",

number = "10",

}

Duclaux-Loras, R, Lebreton, C, Berthelet, J, Charbit-Henrion, F, Nicolle, O, Revenu, DCC, Waich, S, Valovka, T, Khiat, A, Rabant, M, Racine, C, Guerrera, IC, Baptista, J, Mahe, MM, Hess, MW, Durel, B, Lefort, N, Banal, C, Parisot, M, Talbotec, C, Lacaille, F, Ecochard-Dugelay, E, Demir, AM, Vogel, GF, Faivre, L, Rodrigues, A, Fowler, D, Janecke, AR, Müller, T, Huber, LA, Rodrigues-Lima, F, Ruemmele, FM, Uhlig, HH, Del, BF, Michaux, G, Cerf-Bensussan, N & Parlato, M 2022, 'UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking', Journal of Clinical Investigation, vol. 132, no. 10. https://doi.org/10.1172/jci154997

TY - JOUR

T1 - UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking

AU - Duclaux-Loras, Rémi

AU - Lebreton, Corinne

AU - Berthelet, Jérémy

AU - Charbit-Henrion, Fabienne

AU - Nicolle, Ophelie

AU - Revenu, de Courtils C

AU - Waich, Stephanie

AU - Valovka, Taras

AU - Khiat, Anis

AU - Rabant, Marion

AU - Racine, Caroline

AU - Guerrera, Ida Chiara

AU - Baptista, Júlia

AU - Mahe, Maxime M.

AU - Hess, Michael W.

AU - Durel, Béatrice

AU - Lefort, Nathalie

AU - Banal, Céline

AU - Parisot, Mélanie

AU - Talbotec, Cecile

AU - Lacaille, Florence

AU - Ecochard-Dugelay, Emmanuelle

AU - Demir, Arzu Meltem

AU - Vogel, Georg F.

AU - Faivre, Laurence

AU - Rodrigues, Astor

AU - Fowler, Darren

AU - Janecke, Andreas R.

AU - Müller, Thomas

AU - Huber, Lukas A.

AU - Rodrigues-Lima, Fernando

AU - Ruemmele, Frank M.

AU - Uhlig, Holm H.

AU - Del, Bene F

AU - Michaux, Grégoire

AU - Cerf-Bensussan, Nadine

AU - Parlato, Marianna

PY - 2022/5/16

Y1 - 2022/5/16

U2 - 10.1172/jci154997

DO - 10.1172/jci154997

M3 - Article

SN - 0021-9738

VL - 132

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

IS - 10

ER -