Publications:

---

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: 1256C>T; Ser419Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: S419L

PubMed Link: 36406756

Variant Present in the following documents:

• Main text
• fncel-16-1023267.pdf

View BVdb publication page

---

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: S419L

PubMed Link: 36206299

Variant Present in the following documents:

• pcbi.1010611.s002.xlsx, sheet 2

View BVdb publication page

---

Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation.

Journal Of Molecular Biology

Ferla, Matteo P MP; Pagnamenta, Alistair T AT; Koukouflis, Leonidas L; Taylor, Jenny C JC; Marsden, Brian D BD

Publication Date: 2022-06-15

Variant appearance in text: TUBA1A: S419L

PubMed Link: 35662467

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

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: 1256C>T; Ser419Leu

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

---

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: 1256C>T; S419L

PubMed Link: 35017693

Variant Present in the following documents:

• 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: TUBA1A: S419L

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 1256C>T; Ser419Leu

PubMed Link: 30744660

Variant Present in the following documents:

• 13023_2019_1020_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

---

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: S419L

PubMed Link: 29057214

Variant Present in the following documents:

• Main text
• jdb-05-00008.pdf

View BVdb publication page

---

Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: TUBA1A: 1256C>T; Ser419Leu

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

View BVdb publication page

---

Deciphering Supramolecular Structures with Protein-Protein Interaction Network Modeling.

Scientific Reports

Tsuji, Toshiyuki T; Yoda, Takao T; Shirai, Tsuyoshi T

Publication Date: 2015-11-09

Variant appearance in text: TUBA1A: S419L

PubMed Link: 26549015

Variant Present in the following documents:

• srep16341-s1.pdf

View BVdb publication page

---

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: S419L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

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: S419L

PubMed Link: 20603323

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: S419L

PubMed Link: 20466733

Variant Present in the following documents:

• Main text
• ddq182.pdf

View BVdb publication page

---