C. Grimm

Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of SF3B1 mutations

This study uses long-read transcriptome sequencing to analyze SF3B1 mutations in CLL and MDS patients, revealing common splicing alterations and their impact on disease prognosis.

FAM104 proteins promote the nuclear localization of p97/VCP

This study identifies FAM104 proteins as novel p97 interactors that facilitate nuclear import and chromatin binding of p97, highlighting their role in cellular processes and disease.

TRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells

This study shows TRPML1 activation reduces lysosomal storage in CLN3-deficient retinal cells but does not restore BMP levels.

A deep learning approach for improved detection of homologous recombination deficiency from shallow genomic profiles

This paper introduces a deep learning model to detect homologous recombination deficiency from shallow whole genome sequencing data, achieving high accuracy comparable to deeper sequencing methods.

Transient receptor vanilloid 4 (TRPV4) channels are essential for alveolar epithelial cell function

This study shows TRPV4 channels protect alveolar epithelial barriers by maintaining AQP-5 and pSP-C expression, preventing edema during ischemia-reperfusion.

Modulation of Secretory Lysosomes During NK Cell Education Leads to Accumulation of Granzyme B and Enhanced Functional Potential

This study shows that NK cell education leads to accumulation of granzyme B in secretory lysosomes, enhancing cytotoxic function through lysosomal Ca2+ signaling and TRPML1 regulation.