Publications:

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MAPping tubulin mutations.

Frontiers In Cell And Developmental Biology

Cushion, Thomas D TD; Leca, Ines I; Keays, David A DA

Publication Date: 2023

Variant appearance in text: TUBA1A: R402C

PubMed Link: 36875768

Variant Present in the following documents:

• Main text
• fcell-11-1136699.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TUBA1A: 1204C>T; Arg402Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation.

Frontiers In Cellular Neuroscience

Hoff, Katelyn J KJ; Neumann, Andrew J AJ; Moore, Jeffrey K JK

Publication Date: 2022

Variant appearance in text: TUBA1A: R402C

PubMed Link: 36406756

Variant Present in the following documents:

• Main text
• fncel-16-1023267.pdf

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Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.

Plos Computational Biology

Attard, Thomas J TJ; Welburn, Julie P I JPI; Marsh, Joseph A JA

Publication Date: 2022-10

Variant appearance in text: TUBA1A: R402C

PubMed Link: 36206299

Variant Present in the following documents:

• pcbi.1010611.s002.xlsx, sheet 2

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Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European Journal Of Human Genetics : Ejhg

Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S

Publication Date: 2022-03

Variant appearance in text: TUBA1A: 1204C>T; Arg402Cys

PubMed Link: 35017693

Variant Present in the following documents:

• 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: TUBA1A: 1204C>T; Arg402Cys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Orphanet Journal Of Rare Diseases

Hebebrand, Moritz M; Hüffmeier, Ulrike U; Trollmann, Regina R; Hehr, Ute U; Uebe, Steffen S; Ekici, Arif B AB; Kraus, Cornelia C; Krumbiegel, Mandy M; Reis, André A; Thiel, Christian T CT; Popp, Bernt B

Publication Date: 2019-02-11

Variant appearance in text: TUBA1A: 1204C>T; Arg402Cys

PubMed Link: 30744660

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1020.pdf
• 13023_2019_1020_MOESM2_ESM.xlsx, sheet 2
• 13023_2019_1020_MOESM2_ESM.xlsx, sheet 5

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Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.

Brain Sciences

Gardner, Jennifer F JF; Cushion, Thomas D TD; Niotakis, Georgios G; Olson, Heather E HE; Grant, P Ellen PE; Scott, Richard H RH; Stoodley, Neil N; Cohen, Julie S JS; Naidu, Sakkubai S; Attie-Bitach, Tania T; Bonnières, Maryse M; Boutaud, Lucile L; Encha-Razavi, Férechté F; Palmer-Smith, Sheila M SM; Mugalaasi, Hood H; Mullins, Jonathan G L JGL; Pilz, Daniela T DT; Fry, Andrew E AE

Publication Date: 2018-08-07

Variant appearance in text: TUBA1A: Arg402Cys

PubMed Link: 30087272

Variant Present in the following documents:

• Main text
• brainsci-08-00145.pdf

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Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

European Journal Of Human Genetics : Ejhg

Brock, Stefanie S; Stouffs, Katrien K; Scalais, Emmanuel E; D'Hooghe, Marc M; Keymolen, Kathelijn K; Guerrini, Renzo R; Dobyns, William B WB; Di Donato, Nataliya N; Jansen, Anna C AC

Publication Date: 2018-08

Variant appearance in text: TUBA1A: Arg402Cys

PubMed Link: 29706637

Variant Present in the following documents:

• Main text

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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Di Donato, Nataliya N; Timms, Andrew E AE; Aldinger, Kimberly A KA; Mirzaa, Ghayda M GM; Bennett, James T JT; Collins, Sarah S; Olds, Carissa C; Mei, Davide D; Chiari, Sara S; Carvill, Gemma G; Myers, Candace T CT; Rivière, Jean-Baptiste JB; Zaki, Maha S MS; , ; Gleeson, Joseph G JG; Rump, Andreas A; Conti, Valerio V; Parrini, Elena E; Ross, M Elizabeth ME; Ledbetter, David H DH; Guerrini, Renzo R; Dobyns, William B WB

Publication Date: 2018-11

Variant appearance in text: TUBA1A: 1204C>T; Arg402Cys

PubMed Link: 29671837

Variant Present in the following documents:

• NIHMS934304-supplement-Supplementary_table_2.pdf
• nihms934304.pdf

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The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.

Journal Of Developmental Biology

Aiken, Jayne J; Buscaglia, Georgia G; Bates, Emily A EA; Moore, Jeffrey K JK

Publication Date: 2017-09

Variant appearance in text: TUBA1A: R402C

PubMed Link: 29057214

Variant Present in the following documents:

• Main text
• jdb-05-00008.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TUBA1A: 1204C>T; Arg402Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Lissencephaly: Expanded imaging and clinical classification.

American Journal Of Medical Genetics. Part A

Di Donato, Nataliya N; Chiari, Sara S; Mirzaa, Ghayda M GM; Aldinger, Kimberly K; Parrini, Elena E; Olds, Carissa C; Barkovich, A James AJ; Guerrini, Renzo R; Dobyns, William B WB

Publication Date: 2017-06

Variant appearance in text: TUBA1A: R402C

PubMed Link: 28440899

Variant Present in the following documents:

• Main text

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The cytoskeletal arrangements necessary to neurogenesis.

Oncotarget

Compagnucci, Claudia C; Piemonte, Fiorella F; Sferra, Antonella A; Piermarini, Emanuela E; Bertini, Enrico E

Publication Date: 2016-04-12

Variant appearance in text: TUBA1A: 1204C>T; R402C

PubMed Link: 26760504

Variant Present in the following documents:

• oncotarget-07-19414-s001.pdf

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TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.

Scientific Reports

Yokoi, Setsuri S; Ishihara, Naoko N; Miya, Fuyuki F; Tsutsumi, Makiko M; Yanagihara, Itaru I; Fujita, Naoko N; Yamamoto, Hiroyuki H; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Tsunoda, Tatsuhiko T; Yamasaki, Mami M; Kanemura, Yonehiro Y; Kosaki, Kenjiro K; Kojima, Seiji S; Saitoh, Shinji S; Kurahashi, Hiroki H; Natsume, Jun J

Publication Date: 2015-10-23

Variant appearance in text: TUBA1A: R402C

PubMed Link: 26493046

Variant Present in the following documents:

• Main text
• srep15165.pdf
• srep15165-s1.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TUBA1A: R402C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Human Molecular Genetics

Oegema, Renske R; Cushion, Thomas D TD; Phelps, Ian G IG; Chung, Seo-Kyung SK; Dempsey, Jennifer C JC; Collins, Sarah S; Mullins, Jonathan G L JG; Dudding, Tracy T; Gill, Harinder H; Green, Andrew J AJ; Dobyns, William B WB; Ishak, Gisele E GE; Rees, Mark I MI; Doherty, Dan D

Publication Date: 2015-09-15

Variant appearance in text: TUBA1A: Arg402Cys

PubMed Link: 26130693

Variant Present in the following documents:

• Main text

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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

Acta Neuropathologica Communications

Fallet-Bianco, Catherine C; Laquerrière, Annie A; Poirier, Karine K; Razavi, Ferechte F; Guimiot, Fabien F; Dias, Patricia P; Loeuillet, Laurence L; Lascelles, Karine K; Beldjord, Cherif C; Carion, Nathalie N; Toussaint, Aurélie A; Revencu, Nicole N; Addor, Marie-Claude MC; Lhermitte, Benoit B; Gonzales, Marie M; Martinovich, Jelena J; Bessieres, Bettina B; Marcy-Bonnière, Maryse M; Jossic, Frédérique F; Marcorelles, Pascale P; Loget, Philippe P; Chelly, Jamel J; Bahi-Buisson, Nadia N

Publication Date: 2014-07-25

Variant appearance in text: TUBA1A: 1204C>T; R402C

PubMed Link: 25059107

Variant Present in the following documents:

• Main text
• 40478_2014_Article_152.pdf

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A developmental and genetic classification for malformations of cortical development: update 2012.

Brain : A Journal Of Neurology

Barkovich, A James AJ; Guerrini, Renzo R; Kuzniecky, Ruben I RI; Jackson, Graeme D GD; Dobyns, William B WB

Publication Date: 2012-05

Variant appearance in text: TUBA1A: R402C

PubMed Link: 22427329

Variant Present in the following documents:

• Main text
• aws019.pdf

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Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

Current Opinion In Genetics & Development

Tischfield, Max A MA; Cederquist, Gustav Y GY; Gupta, Mohan L ML; Engle, Elizabeth C EC

Publication Date: 2011-06

Variant appearance in text: TUBA1A: R402C

PubMed Link: 21292473

Variant Present in the following documents:

• Main text

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Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.

Acta Neuropathologica

Friocourt, Gaëlle G; Marcorelles, Pascale P; Saugier-Veber, Pascale P; Quille, Marie-Lise ML; Marret, Stephane S; Laquerrière, Annie A

Publication Date: 2011-02

Variant appearance in text: TUBA1A: 1204C>T

PubMed Link: 21046408

Variant Present in the following documents:

• Main text
• 401_2010_Article_768.pdf

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Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.

Human Molecular Genetics

Tian, Guoling G; Jaglin, Xavier H XH; Keays, David A DA; Francis, Fiona F; Chelly, Jamel J; Cowan, Nicholas J NJ

Publication Date: 2010-09-15

Variant appearance in text: TUBA1A: R402C

PubMed Link: 20603323

Variant Present in the following documents:

• Main text

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TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

Human Molecular Genetics

Kumar, Ravinesh A RA; Pilz, Daniela T DT; Babatz, Timothy D TD; Cushion, Thomas D TD; Harvey, Kirsten K; Topf, Maya M; Yates, Laura L; Robb, Stephanie S; Uyanik, Gökhan G; Mancini, Gracia M S GM; Rees, Mark I MI; Harvey, Robert J RJ; Dobyns, William B WB

Publication Date: 2010-07-15

Variant appearance in text: TUBA1A: 1204C>T; R402C

PubMed Link: 20466733

Variant Present in the following documents:

• Main text
• ddq182.pdf

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