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 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^*

^*Corresponding author for this work

Peninsula Medical School

Université Paris Cité
Université de Rennes
Innsbruck Medical University
Université de Bourgogne
Royal Devon & Exeter NHS Foundation Trust
Université de Nantes
University of Innsbruck
Paris Descartes Sorbonne Paris Cite University
Assistance publique – Hôpitaux de Paris
Training and Research Hospital
John Radcliffe Hospital
University of Oxford

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{\textendash}like phenotype by impairing myosin VB{\textendash}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 = "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

UR - https://pearl.plymouth.ac.uk/pms-research/566/

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 -

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

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