Xuefei Lu
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Xuefei Lu has a total of 10 co-authors. Here are the top co-authors by number of shared publications:
- Aat Mulder
Department of Cell and Chemical Biology, Electron Microscopy Facility, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
2 shared publications - Andrew McDonald
Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
2 shared publications - Hailiang Mei
Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, the Netherlands
2 shared publications - Ioannis Moustakas
Department of Anatomy and Embryology, Leiden University Medical Center, 2333 ZC Leiden, The Netherlands
2 shared publications - Jan Wijnholds
Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
2 shared publications - Jun Yang
Department of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, Salt Lake City, USA
2 shared publications
Latest Publications
- Open Access
- 7 February 2026
- Published by MDPI AG in International Journal of Molecular Sciences
- Vol. 27 (4) , 1636
Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells
Pathological USH2A mutations cause Usher syndrome type II, characterized by progressive retinitis pigmentosa and hearing and balance impairment. This study aims to investigate the cellular mechanisms underlying USH2A-related retinal degeneration using human induced pluripotent stem cell (hiPSC)-derived retinal organoids. The introduction of a homozygous nonsense mutation in the USH2A hotspot exon-13 resulted in normal photoreceptor development but loss of ciliary localization of usherin long form B and its interacting proteins, ADGRV1 and whirlin. Notably, single-cell RNA sequencing revealed unexpected significant transcriptional changes in Müller glial cells (MGCs), suggestive of disruptions in the translation, innate immune response, and endolysosomal system. These findings suggest that, while photoreceptor cells are mildly affected by the exon-13 USH2A mutation, MGCs exhibit major transcriptional changes, potentially contributing to the disease progression and therefore shedding light on potential alternative therapeutic targets.
- 7 February 2026
- Published by MDPI AG in International Journal of Molecular Sciences
- Vol. 27 (4) , 1636
Open AccessNonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells
Pathological USH2A mutations cause Usher syndrome type II, characterized by progressive retinitis pigmentosa and hearing and balance impairment. This study aims to investigate the cellular mechanisms underlying USH2A-related retinal degeneration using human induced pluripotent stem cell (hiPSC)-derived retinal organoids. The introduction of a homozygous nonsense mutation in the USH2A hotspot exon-13 resulted in normal photoreceptor development but loss of ciliary localization of usherin long form B and its interacting proteins, ADGRV1 and whirlin. Notably, single-cell RNA sequencing revealed unexpected significant transcriptional changes in Müller glial cells (MGCs), suggestive of disruptions in the translation, innate immune response, and endolysosomal system. These findings suggest that, while photoreceptor cells are mildly affected by the exon-13 USH2A mutation, MGCs exhibit major transcriptional changes, potentially contributing to the disease progression and therefore shedding light on potential alternative therapeutic targets.
- Open Access
- 28 November 2025
- Published by MDPI AG in Preprints.org
Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells
Pathological USH2A mutations cause Usher Syndrome type II, characterized by progres-sive retinitis pigmentosa and hearing and balance impairment. This study aims to inves-tigate the cellular mechanisms underlying USH2A-related retinal degeneration using hu-man induced pluripotent stem cell (hiPSC)-derived retinal organoids. The introduction of a homozygous nonsense mutation in the USH2A hotspot exon-13 resulted in normal photoreceptor development, but loss of ciliary localization of usherin long form B and its interacting proteins, ADGRV1 and whirlin. Notably, single-cell RNA sequencing revealed unexpected significant changes in Müller glial cells (MGCs), with disruptions in the translation, innate immune response, and endolysosomal system. These findings suggest that, while photoreceptor cells are mildly affected by the exon-13 USH2A mutation, MGCs exhibit major dysfunction, potentially contributing to the disease progression and there-fore shedding light on potential alternative therapeutic targets.
- 28 November 2025
- Published by MDPI AG in Preprints.org
Open AccessNonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells
Pathological USH2A mutations cause Usher Syndrome type II, characterized by progres-sive retinitis pigmentosa and hearing and balance impairment. This study aims to inves-tigate the cellular mechanisms underlying USH2A-related retinal degeneration using hu-man induced pluripotent stem cell (hiPSC)-derived retinal organoids. The introduction of a homozygous nonsense mutation in the USH2A hotspot exon-13 resulted in normal photoreceptor development, but loss of ciliary localization of usherin long form B and its interacting proteins, ADGRV1 and whirlin. Notably, single-cell RNA sequencing revealed unexpected significant changes in Müller glial cells (MGCs), with disruptions in the translation, innate immune response, and endolysosomal system. These findings suggest that, while photoreceptor cells are mildly affected by the exon-13 USH2A mutation, MGCs exhibit major dysfunction, potentially contributing to the disease progression and there-fore shedding light on potential alternative therapeutic targets.