Missense variants in <i>TUBA4A</i> cause myo-tubulinopathies

Mridul Johari, Chiara Folland, Yoshihiko Saito, Machteld M. Oud, Jevin M. Parmar, Ana Töpf, Sergei Kurbatov, Maria Ampleeva, Ekaterina Y. Zakharova, Irina A. Chekmareva, Ksenia S. Shirokova, Dmitrii Atiakshin, Thatjana Gardeitchik, Erik-Jan Kamsteeg, Evita Medici, Laura Donker Kaat, Christine C. Bruels, Seth A. Stafki, Elicia A. Estrella, Hannah R. Littel, Louis M. Kunkel, Peter B. Kang, Ikeoluwa Osei-Owusu, Lynn Pais, Melaine O’Leary, Christina Austin-Tse, Anne O’Donnell-Luria, Brian Mangilog, Francesca Clementina Radio, Adele D’Amico, Andrea Ciolfi, Marco Tartaglia, Aurélien Perrin, Charles Van Goethem, Guilhem Sole, Marie-Laure Martin-Négrier, Mireille Cossée, Casie A. Genetti, Zaheer M. Valivullah, Vedrana Milic, Gordana Kovacevic, Ana Kosac, Cristiane A.M. Moreno, Clara Gontijo Camelo, Edmar Zanoteli, Michael C. Fahey, Alan H. Beggs, John Vissing, Volker Straub, Marco Savarese, Giorgio Tasca, Nicol Voermans, Nigel G. Laing, Bjarne Udd, Ichizo Nishino, Gianina Ravenscroft

Open source

DOI: 10.1101/2025.06.26.25330266
Published: 2025-06-28
Container: Not recorded
Publisher: openRxiv
Open access: unknown

Credibility signals

uncertain Score 60/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

supportingDOI registered: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
supportingDOI resolves: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
cautionPublication version: Identified as a preprint; peer review and later versions may change the record. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
supportingMetadata completeness: All 6 scored descriptive metadata groups are present. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1101/2025.06.26.25330266,
  title = {Missense variants in
                  <i>TUBA4A</i>
                  cause myo-tubulinopathies},
  author = {Mridul Johari and Chiara Folland and Yoshihiko Saito and Machteld M. Oud and Jevin M. Parmar and Ana Töpf and Sergei Kurbatov and Maria Ampleeva and Ekaterina Y. Zakharova and Irina A. Chekmareva and Ksenia S. Shirokova and Dmitrii Atiakshin and Thatjana Gardeitchik and Erik-Jan Kamsteeg and Evita Medici and Laura Donker Kaat and Christine C. Bruels and Seth A. Stafki and Elicia A. Estrella and Hannah R. Littel and Louis M. Kunkel and Peter B. Kang and Ikeoluwa Osei-Owusu and Lynn Pais and Melaine O’Leary and Christina Austin-Tse and Anne O’Donnell-Luria and Brian Mangilog and Francesca Clementina Radio and Adele D’Amico and Andrea Ciolfi and Marco Tartaglia and Aurélien Perrin and Charles Van Goethem and Guilhem Sole and Marie-Laure Martin-Négrier and Mireille Cossée and Casie A. Genetti and Zaheer M. Valivullah and Vedrana Milic and Gordana Kovacevic and Ana Kosac and Cristiane A.M. Moreno and Clara Gontijo Camelo and Edmar Zanoteli and Michael C. Fahey and Alan H. Beggs and John Vissing and Volker Straub and Marco Savarese and Giorgio Tasca and Nicol Voermans and Nigel G. Laing and Bjarne Udd and Ichizo Nishino and Gianina Ravenscroft},
  year = {2025},
  doi = {10.1101/2025.06.26.25330266},
  url = {https://doi.org/10.1101/2025.06.26.25330266}
}

RIS

TY  - JOUR
TI  - Missense variants in
                  <i>TUBA4A</i>
                  cause myo-tubulinopathies
AU  - Mridul Johari
AU  - Chiara Folland
AU  - Yoshihiko Saito
AU  - Machteld M. Oud
AU  - Jevin M. Parmar
AU  - Ana Töpf
AU  - Sergei Kurbatov
AU  - Maria Ampleeva
AU  - Ekaterina Y. Zakharova
AU  - Irina A. Chekmareva
AU  - Ksenia S. Shirokova
AU  - Dmitrii Atiakshin
AU  - Thatjana Gardeitchik
AU  - Erik-Jan Kamsteeg
AU  - Evita Medici
AU  - Laura Donker Kaat
AU  - Christine C. Bruels
AU  - Seth A. Stafki
AU  - Elicia A. Estrella
AU  - Hannah R. Littel
AU  - Louis M. Kunkel
AU  - Peter B. Kang
AU  - Ikeoluwa Osei-Owusu
AU  - Lynn Pais
AU  - Melaine O’Leary
AU  - Christina Austin-Tse
AU  - Anne O’Donnell-Luria
AU  - Brian Mangilog
AU  - Francesca Clementina Radio
AU  - Adele D’Amico
AU  - Andrea Ciolfi
AU  - Marco Tartaglia
AU  - Aurélien Perrin
AU  - Charles Van Goethem
AU  - Guilhem Sole
AU  - Marie-Laure Martin-Négrier
AU  - Mireille Cossée
AU  - Casie A. Genetti
AU  - Zaheer M. Valivullah
AU  - Vedrana Milic
AU  - Gordana Kovacevic
AU  - Ana Kosac
AU  - Cristiane A.M. Moreno
AU  - Clara Gontijo Camelo
AU  - Edmar Zanoteli
AU  - Michael C. Fahey
AU  - Alan H. Beggs
AU  - John Vissing
AU  - Volker Straub
AU  - Marco Savarese
AU  - Giorgio Tasca
AU  - Nicol Voermans
AU  - Nigel G. Laing
AU  - Bjarne Udd
AU  - Ichizo Nishino
AU  - Gianina Ravenscroft
PY  - 2025
DO  - 10.1101/2025.06.26.25330266
UR  - https://doi.org/10.1101/2025.06.26.25330266
ER  -

APA

Johari, M., Folland, C., Saito, Y., Oud, M. M., Parmar, J. M., Töpf, A., Kurbatov, S., Ampleeva, M., Zakharova, E. Y., Chekmareva, I. A., Shirokova, K. S., Atiakshin, D., Gardeitchik, T., Kamsteeg, E., Medici, E., Kaat, L. D., Bruels, C. C., Stafki, S. A., Estrella, E. A., Littel, H. R., Kunkel, L. M., Kang, P. B., Osei-Owusu, I., Pais, L., O’Leary, M., Austin-Tse, C., O’Donnell-Luria, A., Mangilog, B., Radio, F. C., D’Amico, A., Ciolfi, A., Tartaglia, M., Perrin, A., Goethem, C. V., Sole, G., Martin-Négrier, M., Cossée, M., Genetti, C. A., Valivullah, Z. M., Milic, V., Kovacevic, G., Kosac, A., Moreno, C. A., Camelo, C. G., Zanoteli, E., Fahey, M. C., Beggs, A. H., Vissing, J., Straub, V., Savarese, M., Tasca, G., Voermans, N., Laing, N. G., Udd, B., Nishino, I., & Ravenscroft, G. (2025). Missense variants in <i>TUBA4A</i> cause myo-tubulinopathies. https://doi.org/10.1101/2025.06.26.25330266

Source records

crossref · retrieved 2026-09-26T21:48:14.764Z