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

Mencacci NE, Minakaki G, Maroofian R, De Pace R, Paimboeuf A, Branco Fonseca T, Abramova T, Shannon P, Chitayat D, Magrinelli F, Peng WJ, Chatterjee D, Eldessouky SH, Baptista J, Marton T, Vogt J, Ortigoza-Escobar JD, Martorell L, Gómez-Chiari M, Wentzensen IM, Kamsteeg EJ, Zaki MS, Scardamaglia A, Zifarelli G, Al-Hassnan ZN, Miller E, Shinar S, Matsa LS, Appikonda SHC, Otaify GA, Al-Thihli K, Al-Maawali A, Schwake M, Severino M, Houlden H, Patten SA, Bonifacino JS, Bhatia KP, Krainc D

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DOI: 10.1172/jci195336
Published: 2026 Jun 1
Container: The Journal of clinical investigation
Publisher: Not recorded
Open access: yes

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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 = {Mencacci NE and Minakaki G and Maroofian R and De Pace R and Paimboeuf A and Branco Fonseca T and Abramova T and Shannon P and Chitayat D and Magrinelli F and Peng WJ and Chatterjee D and Eldessouky SH and Baptista J and Marton T and Vogt J and Ortigoza-Escobar JD and Martorell L and Gómez-Chiari M and Wentzensen IM and Kamsteeg EJ and Zaki MS and Scardamaglia A and Zifarelli G and Al-Hassnan ZN and Miller E and Shinar S and Matsa LS and Appikonda SHC and Otaify GA and Al-Thihli K and Al-Maawali A and Schwake M and Severino M and Houlden H and Patten SA and Bonifacino JS and Bhatia KP and Krainc D},
  year = {2026},
  journal = {The 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  - Mencacci NE
AU  - Minakaki G
AU  - Maroofian R
AU  - De Pace R
AU  - Paimboeuf A
AU  - Branco Fonseca T
AU  - Abramova T
AU  - Shannon P
AU  - Chitayat D
AU  - Magrinelli F
AU  - Peng WJ
AU  - Chatterjee D
AU  - Eldessouky SH
AU  - Baptista J
AU  - Marton T
AU  - Vogt J
AU  - Ortigoza-Escobar JD
AU  - Martorell L
AU  - Gómez-Chiari M
AU  - Wentzensen IM
AU  - Kamsteeg EJ
AU  - Zaki MS
AU  - Scardamaglia A
AU  - Zifarelli G
AU  - Al-Hassnan ZN
AU  - Miller E
AU  - Shinar S
AU  - Matsa LS
AU  - Appikonda SHC
AU  - Otaify GA
AU  - Al-Thihli K
AU  - Al-Maawali A
AU  - Schwake M
AU  - Severino M
AU  - Houlden H
AU  - Patten SA
AU  - Bonifacino JS
AU  - Bhatia KP
AU  - Krainc D
PY  - 2026
JO  - The Journal of clinical investigation
DO  - 10.1172/jci195336
UR  - https://doi.org/10.1172/jci195336
ER  -

APA

NE, M., G, M., R, M., R, D. P., A, P., T, B. F., T, A., P, S., D, C., F, M., WJ, P., D, C., SH, E., J, B., T, M., J, V., JD, O., L, M., M, G., IM, W., EJ, K., MS, Z., A, S., G, Z., ZN, A., E, M., S, S., LS, M., SHC, A., GA, O., K, A., A, A., M, S., M, S., H, H., SA, P., JS, B., KP, B., & D, K. (2026). Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.. The Journal of clinical investigation. https://doi.org/10.1172/jci195336

Source records

pubmed · retrieved 2026-09-25T11:20:26.003Z