Biallelic mutations in TBCD, encoding the tubulin folding cofactor D, perturb microtubule dynamics and cause early-onset neurodegenerative encephalopathy

被引：0

作者：

Niceta, M. ^{[1
]}

Flex, E. ^{[2
]}

Cecchetti, S. ^{[2
]}

Thiffault, I. ^{[3
]}

Au, M. G. ^{[4
]}

Capuano, A. ^{[1
]}

Piermarini, E. ^{[1
]}

Ivanova, A. A. ^{[5
]}

Francis, J. W. ^{[5
]}

Chillemi, G. ^{[6
]}

Chandramouli, B. ^{[7
]}

Carpentieri, G.

Haaxma, C. A. ^{[8
]}

Ciolfi, A. ^{[1
]}

Pizzi, S. ^{[1
]}

Ganka, D. ^{[9
]}

Levine, K. ^{[9
]}

Sferra, A. ^{[1
]}

Dentici, M. L. ^{[1
]}

Pfundt, R. R. ^{[8
]}

Lepichon, J. ^{[10
]}

Farrow, E.

Baas, F. ^{[11
]}

Piemonte, F. ^{[1
]}

Dallapiccola, B. ^{[1
]}

Graham, J. M., Jr. ^{[4
]}

Saunders, C. J. ^{[3
]}

Bertini, E. ^{[1
]}

Kahn, R. A. ^{[5
]}

Koolen, D. A. ^{[8
]}

Tartaglia, M. ^{[1
]}

机构：

[1] Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy

[2] Ist Super Sanita, Dept Hematol Oncol & Mol Med, Rome, Italy

[3] Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

[4] Cedars Sinai Med Ctr, Dept Pediat, Med Genet, Los Angeles, CA 90048 USA

[5] Emory Univ, Sch Med, Dept Biochem, Atlanta, GA 30322 USA

[6] CINECA, SCAI SuperComp Applicat & Innovat Dept, Rome, Italy

[7] Scuola Normale Super Pisa, Pisa, Italy

[8] Radboud Univ Nijmegen, Dept Human Genet, Donders Inst Brain Cognit & Behav, Med Ctr, Nijmegen, Netherlands

[9] GeneDx, Gaithersburg, MD USA

[10] Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA

[11] Acad Med Ctr, Dept Genome Anal, Amsterdam, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P11.002B

引用

页码：450 / 451

页数：2

共 20 条

[1] Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
Flex, Elisabetta
Niceta, Marcello
Cecchetti, Serena
Thiffault, Isabelle
Au, Margaret G.
Capuano, Alessandro
Piermarini, Emanuela
Ivanova, Anna A.
Francis, Joshua W.
Chillemi, Giovanni
Chandramouli, Balasubramanian
Carpentieri, Giovanna
Haaxma, Charlotte A.
Ciolfi, Andrea
Pizzi, Simone
Douglas, Ganka V.
Levine, Kara
Sferra, Antonella
Dentici, Maria Lisa
Pfundt, Rolph R.
Le Pichon, Jean-Baptiste
Farrow, Emily
Baas, Frank
Piemonte, Fiorella
Dallapiccola, Bruno
Graham, John M., Jr.
Saunders, Carol J.
Bertini, Enrico
Kahn, Richard A.
Koolen, David A.
Tartaglia, Marco
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (04) : 962 - 973
[2] Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy
Miyake, Noriko
Fukai, Ryoko
Ohba, Chihiro
Chihara, Takahiro
Miura, Masayuki
Shimizu, Hiroshi
Kakita, Akiyoshi
Imagawa, Eri
Shiina, Masaaki
Ogata, Kazuhiro
Okuno-Yuguchi, Jiu
Fueki, Noboru
Ogiso, Yoshifumi
Suzumura, Hiroshi
Watabe, Yoshiyuki
Imataka, George
Leong, Huey Yin
Fattal-Valevski, Aviva
Kramer, Uri
Miyatake, Satoko
Kato, Mitsuhiro
Okamoto, Nobuhiko
Sato, Yoshinori
Mitsuhashi, Satomi
Nishino, Ichizo
Kaneko, Naofumi
Nishiyama, Akira
Tamura, Tomohiko
Mizuguchi, Takeshi
Nakashima, Mitsuko
Tanaka, Fumiaki
Saitsu, Hirotomo
Matsumoto, Naomichi
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (04) : 950 - 961
[3] TBCD mutations cause autosomal recessive early childhood-onset neurodegenerative encephalopathy
Miyake, N.
Chihara, T.
Miura, M.
Shimizu, H.
Kakita, A.
Matsumoto, N.
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 362 - 363
[4] Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy
Mutoh, Hiroki
Kato, Mitsuhiro
Akita, Tenpei
Shibata, Takuma
Wakamoto, Hiroyuki
Ikeda, Hiroko
Kitaura, Hiroki
Aoto, Kazushi
Nakashima, Mitsuko
Wang, Tianying
Ohba, Chihiro
Miyatake, Satoko
Miyake, Noriko
Kakita, Akiyoshi
Miyake, Kensuke
Fukuda, Atsuo
Matsumoto, Naomichi
Saitsu, Hirotomo
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 102 (02) : 321 - 329
[5] Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy
Ait-El-Mkadem, Samira
Dayem-Quere, Manal
Gusic, Mirjana
Chaussenot, Annabelle
Bannwarth, Sylvie
Francois, Berengere
Genin, Emmanuelle C.
Fragaki, Konstantina
Volker-Touw, Catharina L. M.
Vasnier, Christelle
Serre, Valerie
van Gassen, Koen L. I.
Lespinasse, Francoise
Richter, Susan
Eisenhofer, Graeme
Rouzier, Cecile
Mochel, Fanny
De Saint-Martin, Anne
Warde, Marie-Therese Abi
de Sain-van der Velde, Monique G. M.
Jans, Judith J. M.
Amiel, Jeanne
Avsec, Ziga
Mertes, Christian
Haack, Tobias B.
Strom, Tim
Meitinger, Thomas
Bonnen, Penelope E.
Taylor, Robert W.
Gagneur, Julien
van Hasselt, Peter M.
Rotig, Agnes
Delahodde, Agnes
Prokisch, Holger
Fuchs, Sabine A.
Paquis-Flucklinger, Veronique
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (01) : 151 - 159
[6] Biallelic truncating &ITFANCM&IT mutations cause early-onset cancer but not Fanconi anemia
Bogliolo, Massimo
Bluteau, Dominique
Lespinasse, James
Pujol, Roser
Vasquez, Nadia
d'Enghien, Catherine Dubois
Stoppa-Lyonnet, Dominique
Leblanc, Thierry
Soulier, Jean
Surralles, Jordi
[J]. GENETICS IN MEDICINE, 2018, 20 (04) : 458 - 463
[7] Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy
Tsuchida, N.
Nakashima, M.
Miyauchi, A.
Yoshitomi, S.
Kimizu, T.
Ganesan, V.
Teik, K. W.
Ch'ng, G. -S.
Kato, M.
Mizuguchi, T.
Takata, A.
Miyatake, S.
Miyake, N.
Osaka, H.
Yamagata, T.
Nakajima, H.
Saitsu, H.
Matsumoto, N.
[J]. CLINICAL GENETICS, 2018, 93 (02) : 266 - 274
[8] Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy
Dahimene, Shehrazade
von Elsner, Leonie
Holling, Tess
Mattas, Lauren S.
Pickard, Jess
Lessel, Davor
Pilch, Kjara S.
Kadurin, Ivan
Pratt, Wendy S.
Zhulin, Igor B.
Dai, Hongzheng
Hempel, Maja
Ruzhnikov, Maura R. Z.
Kutsche, Kerstin
Dolphin, Annette C.
[J]. BRAIN, 2022, 145 (08) : 2721 - 2729
[9] TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
Sferra, Antonella
Baillat, Gilbert
Rizza, Teresa
Barresi, Sabina
Flex, Elisabetta
Tasca, Giorgio
D'Amico, Adele
Bellacchio, Emanuele
Ciolfi, Andrea
Caputo, Viviana
Cecchetti, Serena
Torella, Annalaura
Zanni, Ginevra
Diodato, Daria
Piermarini, Emanuela
Niceta, Marcello
Coppola, Antonietta
Tedeschi, Enrico
Martinelli, Diego
Dionisi-Vici, Carlo
Nigro, Vincenzo
Dallapiccola, Bruno
Compagnucci, Claudia
Tartaglia, Marco
Haase, Georg
Bertini, Enrico
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (04) : 974 - 983
[10] Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy
Hirofumi Kodera
Hitoshi Osaka
Mizue Iai
Noriko Aida
Akio Yamashita
Yoshinori Tsurusaki
Mitsuko Nakashima
Noriko Miyake
Hirotomo Saitsu
Naomichi Matsumoto
[J]. Journal of Human Genetics, 2015, 60 : 97 - 101

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