Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

B.V. Johnson; R. Kumar; S. Oishi; S. Alexander; M. Kasherman; M.S. Vega; A. Ivancevic; A. Gardner; D. Domingo; M. Corbett; E. Parnell; S. Yoon; T. Oh; M. Lines; H. Lefroy; U. Kini; M. Van Allen; S. Gronborg; S. Mercier; S. Kury; S. Bezieau; L. Pasquier; M. Raynaud; A. Afenjar; T.B. de Villemeur; B. Keren; J. Desir; L. Van Maldergem; M. Marangoni; N. Dikow; D.A. Koolen; P.M. VanHasselt; M. Weiss; P. Zwijnenburg; J. Sa; C.F. Reis; C. Lopez-Otin; O. Santiago-Fernandez; A. Fernandez-Jaen; A. Rauch; K. Steindl; P. Joset; A. Goldstein; S. Madan-Khetarpal; E. Infante; E. Zackai; C. Mcdougall; V. Narayanan; K. Ramsey; S. Mercimek-Andrews; Undiagnosed Diseases Network; Margot Reijnders; Jozef Gecz

doi:10.1016/j.biopsych.2019.05.028

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

B.V. Johnson, R. Kumar, S. Oishi, S. Alexander, M. Kasherman, M.S. Vega, A. Ivancevic, A. Gardner, D. Domingo, M. Corbett, E. Parnell, S. Yoon, T. Oh, M. Lines, H. Lefroy, U. Kini, M. Van Allen, S. Gronborg, S. Mercier, S. KuryS. Bezieau, L. Pasquier, M. Raynaud, A. Afenjar, T.B. de Villemeur, B. Keren, J. Desir, L. Van Maldergem, M. Marangoni, N. Dikow, D.A. Koolen, P.M. VanHasselt, M. Weiss, P. Zwijnenburg, J. Sa, C.F. Reis, C. Lopez-Otin, O. Santiago-Fernandez, A. Fernandez-Jaen, A. Rauch, K. Steindl, P. Joset, A. Goldstein, S. Madan-Khetarpal, E. Infante, E. Zackai, C. Mcdougall, V. Narayanan, K. Ramsey, S. Mercimek-Andrews, Undiagnosed Diseases Network, Margot Reijnders, Jozef Gecz^*

^*Corresponding author for this work

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

18 Citations (Web of Science)

Original language	English
Pages (from-to)	100-112
Number of pages	13
Journal	Biological Psychiatry
Volume	87
Issue number	2
DOIs	https://doi.org/10.1016/j.biopsych.2019.05.028
Publication status	Published - 15 Jan 2020

Keywords

brain malformation
cell-migration
deubiquitinating enzyme
deubiquitylating enzyme
fam/usp9x
hippocampus
in-vitro
intellectual disability
interacts
liquid facets
neurodevelopmental disorder
of-function mutations
phenotype
tgf beta
usp9x
DEUBIQUITINATING ENZYME
Deubiquitylating enzyme
Neurodevelopmental disorder
OF-FUNCTION MUTATIONS
LIQUID FACETS
Brain malformation
INTELLECTUAL DISABILITY
IN-VITRO
INTERACTS
TGF beta
USP9X
PHENOTYPE
CELL-MIGRATION
DEUBIQUITYLATING ENZYME
Hippocampus
FAM/USP9X

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10.1016/j.biopsych.2019.05.028

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Johnson, B. V., Kumar, R., Oishi, S., Alexander, S., Kasherman, M., Vega, M. S., Ivancevic, A., Gardner, A., Domingo, D., Corbett, M., Parnell, E., Yoon, S., Oh, T., Lines, M., Lefroy, H., Kini, U., Van Allen, M., Gronborg, S., Mercier, S., ... Gecz, J. (2020). Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. Biological Psychiatry, 87(2), 100-112. https://doi.org/10.1016/j.biopsych.2019.05.028

Johnson, B.V. ; Kumar, R. ; Oishi, S. ; Alexander, S. ; Kasherman, M. ; Vega, M.S. ; Ivancevic, A. ; Gardner, A. ; Domingo, D. ; Corbett, M. ; Parnell, E. ; Yoon, S. ; Oh, T. ; Lines, M. ; Lefroy, H. ; Kini, U. ; Van Allen, M. ; Gronborg, S. ; Mercier, S. ; Kury, S. ; Bezieau, S. ; Pasquier, L. ; Raynaud, M. ; Afenjar, A. ; de Villemeur, T.B. ; Keren, B. ; Desir, J. ; Van Maldergem, L. ; Marangoni, M. ; Dikow, N. ; Koolen, D.A. ; VanHasselt, P.M. ; Weiss, M. ; Zwijnenburg, P. ; Sa, J. ; Reis, C.F. ; Lopez-Otin, C. ; Santiago-Fernandez, O. ; Fernandez-Jaen, A. ; Rauch, A. ; Steindl, K. ; Joset, P. ; Goldstein, A. ; Madan-Khetarpal, S. ; Infante, E. ; Zackai, E. ; Mcdougall, C. ; Narayanan, V. ; Ramsey, K. ; Mercimek-Andrews, S. ; Undiagnosed Diseases Network ; Reijnders, Margot ; Gecz, Jozef. / Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. In: Biological Psychiatry. 2020 ; Vol. 87, No. 2. pp. 100-112.

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title = "Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling",

keywords = "brain malformation, cell-migration, deubiquitinating enzyme, deubiquitylating enzyme, fam/usp9x, hippocampus, in-vitro, intellectual disability, interacts, liquid facets, neurodevelopmental disorder, of-function mutations, phenotype, tgf beta, usp9x, DEUBIQUITINATING ENZYME, Deubiquitylating enzyme, Neurodevelopmental disorder, OF-FUNCTION MUTATIONS, LIQUID FACETS, Brain malformation, INTELLECTUAL DISABILITY, IN-VITRO, INTERACTS, TGF beta, USP9X, PHENOTYPE, CELL-MIGRATION, DEUBIQUITYLATING ENZYME, Hippocampus, FAM/USP9X",

author = "B.V. Johnson and R. Kumar and S. Oishi and S. Alexander and M. Kasherman and M.S. Vega and A. Ivancevic and A. Gardner and D. Domingo and M. Corbett and E. Parnell and S. Yoon and T. Oh and M. Lines and H. Lefroy and U. Kini and {Van Allen}, M. and S. Gronborg and S. Mercier and S. Kury and S. Bezieau and L. Pasquier and M. Raynaud and A. Afenjar and {de Villemeur}, T.B. and B. Keren and J. Desir and {Van Maldergem}, L. and M. Marangoni and N. Dikow and D.A. Koolen and P.M. VanHasselt and M. Weiss and P. Zwijnenburg and J. Sa and C.F. Reis and C. Lopez-Otin and O. Santiago-Fernandez and A. Fernandez-Jaen and A. Rauch and K. Steindl and P. Joset and A. Goldstein and S. Madan-Khetarpal and E. Infante and E. Zackai and C. Mcdougall and V. Narayanan and K. Ramsey and S. Mercimek-Andrews and {Undiagnosed Diseases Network} and Margot Reijnders and Jozef Gecz",

year = "2020",

month = jan,

day = "15",

doi = "10.1016/j.biopsych.2019.05.028",

language = "English",

volume = "87",

pages = "100--112",

journal = "Biological Psychiatry",

issn = "0006-3223",

publisher = "Elsevier Science",

number = "2",

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Johnson, BV, Kumar, R, Oishi, S, Alexander, S, Kasherman, M, Vega, MS, Ivancevic, A, Gardner, A, Domingo, D, Corbett, M, Parnell, E, Yoon, S, Oh, T, Lines, M, Lefroy, H, Kini, U, Van Allen, M, Gronborg, S, Mercier, S, Kury, S, Bezieau, S, Pasquier, L, Raynaud, M, Afenjar, A, de Villemeur, TB, Keren, B, Desir, J, Van Maldergem, L, Marangoni, M, Dikow, N, Koolen, DA, VanHasselt, PM, Weiss, M, Zwijnenburg, P, Sa, J, Reis, CF, Lopez-Otin, C, Santiago-Fernandez, O, Fernandez-Jaen, A, Rauch, A, Steindl, K, Joset, P, Goldstein, A, Madan-Khetarpal, S, Infante, E, Zackai, E, Mcdougall, C, Narayanan, V, Ramsey, K, Mercimek-Andrews, S, Undiagnosed Diseases Network, Reijnders, M & Gecz, J 2020, 'Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling', Biological Psychiatry, vol. 87, no. 2, pp. 100-112. https://doi.org/10.1016/j.biopsych.2019.05.028

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. / Johnson, B.V.; Kumar, R.; Oishi, S.; Alexander, S.; Kasherman, M.; Vega, M.S.; Ivancevic, A.; Gardner, A.; Domingo, D.; Corbett, M.; Parnell, E.; Yoon, S.; Oh, T.; Lines, M.; Lefroy, H.; Kini, U.; Van Allen, M.; Gronborg, S.; Mercier, S.; Kury, S.; Bezieau, S.; Pasquier, L.; Raynaud, M.; Afenjar, A.; de Villemeur, T.B.; Keren, B.; Desir, J.; Van Maldergem, L.; Marangoni, M.; Dikow, N.; Koolen, D.A.; VanHasselt, P.M.; Weiss, M.; Zwijnenburg, P.; Sa, J.; Reis, C.F.; Lopez-Otin, C.; Santiago-Fernandez, O.; Fernandez-Jaen, A.; Rauch, A.; Steindl, K.; Joset, P.; Goldstein, A.; Madan-Khetarpal, S.; Infante, E.; Zackai, E.; Mcdougall, C.; Narayanan, V.; Ramsey, K.; Mercimek-Andrews, S.; Undiagnosed Diseases Network ; Reijnders, Margot; Gecz, Jozef.

In: Biological Psychiatry, Vol. 87, No. 2, 15.01.2020, p. 100-112.

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

TY - JOUR

T1 - Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

AU - Johnson, B.V.

AU - Kumar, R.

AU - Oishi, S.

AU - Alexander, S.

AU - Kasherman, M.

AU - Vega, M.S.

AU - Ivancevic, A.

AU - Gardner, A.

AU - Domingo, D.

AU - Corbett, M.

AU - Parnell, E.

AU - Yoon, S.

AU - Oh, T.

AU - Lines, M.

AU - Lefroy, H.

AU - Kini, U.

AU - Van Allen, M.

AU - Gronborg, S.

AU - Mercier, S.

AU - Kury, S.

AU - Bezieau, S.

AU - Pasquier, L.

AU - Raynaud, M.

AU - Afenjar, A.

AU - de Villemeur, T.B.

AU - Keren, B.

AU - Desir, J.

AU - Van Maldergem, L.

AU - Marangoni, M.

AU - Dikow, N.

AU - Koolen, D.A.

AU - VanHasselt, P.M.

AU - Weiss, M.

AU - Zwijnenburg, P.

AU - Sa, J.

AU - Reis, C.F.

AU - Lopez-Otin, C.

AU - Santiago-Fernandez, O.

AU - Fernandez-Jaen, A.

AU - Rauch, A.

AU - Steindl, K.

AU - Joset, P.

AU - Goldstein, A.

AU - Madan-Khetarpal, S.

AU - Infante, E.

AU - Zackai, E.

AU - Mcdougall, C.

AU - Narayanan, V.

AU - Ramsey, K.

AU - Mercimek-Andrews, S.

AU - Undiagnosed Diseases Network

AU - Reijnders, Margot

AU - Gecz, Jozef

PY - 2020/1/15

Y1 - 2020/1/15

KW - brain malformation

KW - cell-migration

KW - deubiquitinating enzyme

KW - deubiquitylating enzyme

KW - fam/usp9x

KW - hippocampus

KW - in-vitro

KW - intellectual disability

KW - interacts

KW - liquid facets

KW - neurodevelopmental disorder

KW - of-function mutations

KW - phenotype

KW - tgf beta

KW - usp9x

KW - DEUBIQUITINATING ENZYME

KW - Deubiquitylating enzyme

KW - Neurodevelopmental disorder

KW - OF-FUNCTION MUTATIONS

KW - LIQUID FACETS

KW - Brain malformation

KW - INTELLECTUAL DISABILITY

KW - IN-VITRO

KW - INTERACTS

KW - TGF beta

KW - USP9X

KW - PHENOTYPE

KW - CELL-MIGRATION

KW - DEUBIQUITYLATING ENZYME

KW - Hippocampus

KW - FAM/USP9X

U2 - 10.1016/j.biopsych.2019.05.028

DO - 10.1016/j.biopsych.2019.05.028

M3 - Article

C2 - 31443933

VL - 87

SP - 100

EP - 112

JO - Biological Psychiatry

JF - Biological Psychiatry

SN - 0006-3223

IS - 2

ER -