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: L397P

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: 1190T>C; Leu397Pro

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: L397P

PubMed Link: 36406756

Variant Present in the following documents:

• Main text
• fncel-16-1023267.pdf

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: TUBA1A: 1190T>C; Leu397Pro

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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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: 1190T>C; Leu397Pro

PubMed Link: 35017693

Variant Present in the following documents:

• 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: TUBA1A: 1190T>C; Leu397Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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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: 1190T>C; Leu397Pro

PubMed Link: 30744660

Variant Present in the following documents:

• 13023_2019_1020_MOESM2_ESM.xlsx, sheet 5

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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: L397P

PubMed Link: 29057214

Variant Present in the following documents:

• Main text
• jdb-05-00008.pdf

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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: 1190T>C; L397P

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: L397P

PubMed Link: 26493046

Variant Present in the following documents:

• srep15165-s1.pdf

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Cytoarchitectural disruption of the superior colliculus and an enlarged acoustic startle response in the Tuba1a mutant mouse.

Neuroscience

Edwards, A A; Treiber, C D CD; Breuss, M M; Pidsley, R R; Huang, G-J GJ; Cleak, J J; Oliver, P L PL; Flint, J J; Keays, D A DA

Publication Date: 2011-11-10

Variant appearance in text: TUBA1A: L397P

PubMed Link: 21875651

Variant Present in the following documents:

• Main text

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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: L397P

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: L397P

PubMed Link: 20466733

Variant Present in the following documents:

• Main text
• ddq182.pdf

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