Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction

Niccolò E. Mencacci, Georgia Minakaki, Reza Maroofian, Raffaella De Pace, Adeline Paimboeuf, Tiago Branco Fonseca, Tatiana Abramova, Patrick Shannon, David Chitayat, Francesca Magrinelli, Wesley J. Peng, Diptaman Chatterjee, Sara H. Eldessouky, Julia Baptista, Tamas Marton, Julie Vogt, Juan Dario Ortigoza-Escobar, Loreto Martorell, Marta Gómez-Chiari, Ingrid M. Wentzensen, Erik-Jan Kamsteeg, Maha S. Zaki, Annarita Scardamaglia, Giovanni Zifarelli, Zuhair Nasser Al-Hassnan, Elka Miller, Shiri Shinar, Lova S. Matsa, Sri Hari Chandan Appikonda, Ghada A. Otaify, Khalid Al-Thihli, Almundher Al-Maawali, Michael Schwake, Mariasavina Severino, Henry Houlden, Shunmoogum A. Patten, Juan S. Bonifacino, Kailash P. Bhatia, Dimitri Krainc

Open source

DOI: 10.1172/jci195336
Published: 2026-04-21
Container: Journal of Clinical Investigation
Publisher: American Society for Clinical Investigation
Open access: unknown

Credibility signals

uncertain Score 64/100 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
not scoredPublication version: A publication version was supplied but is not scored. 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:10.1172/jci195336,
  title = {Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction},
  author = {Niccolò E. Mencacci and Georgia Minakaki and Reza Maroofian and Raffaella De Pace and Adeline Paimboeuf and Tiago Branco Fonseca and Tatiana Abramova and Patrick Shannon and David Chitayat and Francesca Magrinelli and Wesley J. Peng and Diptaman Chatterjee and Sara H. Eldessouky and Julia Baptista and Tamas Marton and Julie Vogt and Juan Dario Ortigoza-Escobar and Loreto Martorell and Marta Gómez-Chiari and Ingrid M. Wentzensen and Erik-Jan Kamsteeg and Maha S. Zaki and Annarita Scardamaglia and Giovanni Zifarelli and Zuhair Nasser Al-Hassnan and Elka Miller and Shiri Shinar and Lova S. Matsa and Sri Hari Chandan Appikonda and Ghada A. Otaify and Khalid Al-Thihli and Almundher Al-Maawali and Michael Schwake and Mariasavina Severino and Henry Houlden and Shunmoogum A. Patten and Juan S. Bonifacino and Kailash P. Bhatia and Dimitri Krainc},
  year = {2026},
  journal = {Journal of Clinical Investigation},
  doi = {10.1172/jci195336},
  url = {https://doi.org/10.1172/jci195336}
}

RIS

TY  - JOUR
TI  - Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction
AU  - Niccolò E. Mencacci
AU  - Georgia Minakaki
AU  - Reza Maroofian
AU  - Raffaella De Pace
AU  - Adeline Paimboeuf
AU  - Tiago Branco Fonseca
AU  - Tatiana Abramova
AU  - Patrick Shannon
AU  - David Chitayat
AU  - Francesca Magrinelli
AU  - Wesley J. Peng
AU  - Diptaman Chatterjee
AU  - Sara H. Eldessouky
AU  - Julia Baptista
AU  - Tamas Marton
AU  - Julie Vogt
AU  - Juan Dario Ortigoza-Escobar
AU  - Loreto Martorell
AU  - Marta Gómez-Chiari
AU  - Ingrid M. Wentzensen
AU  - Erik-Jan Kamsteeg
AU  - Maha S. Zaki
AU  - Annarita Scardamaglia
AU  - Giovanni Zifarelli
AU  - Zuhair Nasser Al-Hassnan
AU  - Elka Miller
AU  - Shiri Shinar
AU  - Lova S. Matsa
AU  - Sri Hari Chandan Appikonda
AU  - Ghada A. Otaify
AU  - Khalid Al-Thihli
AU  - Almundher Al-Maawali
AU  - Michael Schwake
AU  - Mariasavina Severino
AU  - Henry Houlden
AU  - Shunmoogum A. Patten
AU  - Juan S. Bonifacino
AU  - Kailash P. Bhatia
AU  - Dimitri Krainc
PY  - 2026
JO  - Journal of Clinical Investigation
DO  - 10.1172/jci195336
UR  - https://doi.org/10.1172/jci195336
ER  -

APA

Mencacci, N. E., Minakaki, G., Maroofian, R., Pace, R. D., Paimboeuf, A., Fonseca, T. B., Abramova, T., Shannon, P., Chitayat, D., Magrinelli, F., Peng, W. J., Chatterjee, D., Eldessouky, S. H., Baptista, J., Marton, T., Vogt, J., Ortigoza-Escobar, J. D., Martorell, L., Gómez-Chiari, M., Wentzensen, I. M., Kamsteeg, E., Zaki, M. S., Scardamaglia, A., Zifarelli, G., Al-Hassnan, Z. N., Miller, E., Shinar, S., Matsa, L. S., Appikonda, S. H. C., Otaify, G. A., Al-Thihli, K., Al-Maawali, A., Schwake, M., Severino, M., Houlden, H., Patten, S. A., Bonifacino, J. S., Bhatia, K. P., & Krainc, D. (2026). Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction. Journal of Clinical Investigation. https://doi.org/10.1172/jci195336

Source records

crossref · retrieved 2026-11-11T02:03:08.206Z