Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy

V.A. Gupta; Gina Ravenscroft; R. Shaheen; Emily Todd; L.C. Swanson; M. Shiina; K. Ogata; C. Hsu; N.F. Clarke; B.T. Darras; M.A. Farrar; A. Hashem; N.D. Manton; F. Muntoni; K.N. North; S.A. Sandaradura; I. Nishino; Y.K. Hayashi; C.A. Sewry; E.M. Thompson; Kyle Yau; C.A. Brownstein; T.W. Yu; Richard Allcock; M.R. Davis; C. Wallgren-Pettersson; N. Matsumoto; F.S. Alkuraya; Nigel Laing; A.H. Beggs

doi:10.1016/j.ajhg.2013.10.020

Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy

V.A. Gupta, Gina Ravenscroft, R. Shaheen, Emily Todd, L.C. Swanson, M. Shiina, K. Ogata, C. Hsu, N.F. Clarke, B.T. Darras, M.A. Farrar, A. Hashem, N.D. Manton, F. Muntoni, K.N. North, S.A. Sandaradura, I. Nishino, Y.K. Hayashi, C.A. Sewry, E.M. ThompsonKyle Yau, C.A. Brownstein, T.W. Yu, Richard Allcock, M.R. Davis, C. Wallgren-Pettersson, N. Matsumoto, F.S. Alkuraya, Nigel Laing, A.H. Beggs

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

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

130 Citations (Scopus)

Original language	English
Pages (from-to)	1108-1117
Journal	American Journal of Human Genetics
Volume	93
DOIs	https://doi.org/10.1016/j.ajhg.2013.10.020
Publication status	Published - 2013

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10.1016/j.ajhg.2013.10.020

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Gupta, V. A., Ravenscroft, G., Shaheen, R., Todd, E., Swanson, L. C., Shiina, M., Ogata, K., Hsu, C., Clarke, N. F., Darras, B. T., Farrar, M. A., Hashem, A., Manton, N. D., Muntoni, F., North, K. N., Sandaradura, S. A., Nishino, I., Hayashi, Y. K., Sewry, C. A., ... Beggs, A. H. (2013). Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy. American Journal of Human Genetics, 93, 1108-1117. https://doi.org/10.1016/j.ajhg.2013.10.020

@article{56c3dd37f6c44641b22e3be275e3c3e6,

title = "Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy",

author = "V.A. Gupta and Gina Ravenscroft and R. Shaheen and Emily Todd and L.C. Swanson and M. Shiina and K. Ogata and C. Hsu and N.F. Clarke and B.T. Darras and M.A. Farrar and A. Hashem and N.D. Manton and F. Muntoni and K.N. North and S.A. Sandaradura and I. Nishino and Y.K. Hayashi and C.A. Sewry and E.M. Thompson and Kyle Yau and C.A. Brownstein and T.W. Yu and Richard Allcock and M.R. Davis and C. Wallgren-Pettersson and N. Matsumoto and F.S. Alkuraya and Nigel Laing and A.H. Beggs",

year = "2013",

doi = "10.1016/j.ajhg.2013.10.020",

language = "English",

volume = "93",

pages = "1108--1117",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "UNIV CHICAGO PRESS",

}

Gupta, VA, Ravenscroft, G, Shaheen, R, Todd, E, Swanson, LC, Shiina, M, Ogata, K, Hsu, C, Clarke, NF, Darras, BT, Farrar, MA, Hashem, A, Manton, ND, Muntoni, F, North, KN, Sandaradura, SA, Nishino, I, Hayashi, YK, Sewry, CA, Thompson, EM, Yau, K, Brownstein, CA, Yu, TW, Allcock, R, Davis, MR, Wallgren-Pettersson, C, Matsumoto, N, Alkuraya, FS, Laing, N & Beggs, AH 2013, 'Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy', American Journal of Human Genetics, vol. 93, pp. 1108-1117. https://doi.org/10.1016/j.ajhg.2013.10.020

TY - JOUR

T1 - Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy

AU - Gupta, V.A.

AU - Ravenscroft, Gina

AU - Shaheen, R.

AU - Todd, Emily

AU - Swanson, L.C.

AU - Shiina, M.

AU - Ogata, K.

AU - Hsu, C.

AU - Clarke, N.F.

AU - Darras, B.T.

AU - Farrar, M.A.

AU - Hashem, A.

AU - Manton, N.D.

AU - Muntoni, F.

AU - North, K.N.

AU - Sandaradura, S.A.

AU - Nishino, I.

AU - Hayashi, Y.K.

AU - Sewry, C.A.

AU - Thompson, E.M.

AU - Yau, Kyle

AU - Brownstein, C.A.

AU - Yu, T.W.

AU - Allcock, Richard

AU - Davis, M.R.

AU - Wallgren-Pettersson, C.

AU - Matsumoto, N.

AU - Alkuraya, F.S.

AU - Laing, Nigel

AU - Beggs, A.H.

PY - 2013

Y1 - 2013

U2 - 10.1016/j.ajhg.2013.10.020

DO - 10.1016/j.ajhg.2013.10.020

M3 - Article

C2 - 24268659

SN - 0002-9297

VL - 93

SP - 1108

EP - 1117

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -