Valeria Aceves
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Research Interests
Valeria Aceves has a total of 13 co-authors. Here are the top co-authors by number of shared publications:
- Daniel H. Cohn
Department of Molecular, Cell, and Developmental Biology, Department of Orthopaedic Surgery University of California, Los Angeles Los Angeles California USA
1 shared publication - David B. Goldstein
Actio Biosciences, San Diego, California, USA
1 shared publication - Davis Wachtell
Department of Orthopaedic Surgery, UCLA, Los Angeles, California, USA
1 shared publication - Deborah Krakow
Orthopaedic Surgery, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, CA, USA; Human Genetics, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, CA, USA; Obstetrics and Gynecology, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, CA, USA
1 shared publication - Derick Diaz
Department of Molecular, Cell and Developmental Biology, UCLA, Los Angeles, California, USA
1 shared publication - Jennifer Zieba
Department of Orthopaedic Surgery, David Geffen School of Medicine at University of California, Los Angeles, United States
1 shared publication
Latest Publications
- Open Access
- 23 January 2026
- Published by American Society for Clinical Investigation in JCI Insight
- Vol. 11 (2)
Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice
The TRPV4 skeletal dysplasias are characterized by short stature, short limbs with prominent large joints, and progressive scoliosis. They result from dominant missense mutations that activate the TRPV4 calcium permeable ion channel. As a platform to understand the mechanism of disease and to test the hypothesis that channel inhibition could treat these disorders, we developed a knock-in mouse that conditionally expresses the p.R594H Trpv4 mutation. Embryonic, chondrocyte-specific induction of the mutation using Col2a1-Cre resulted in a skeletal dysplasia affecting the long bones, spine, and craniofacial skeletal elements, consistent with the human skeletal dysplasia phenotypes produced by TRPV4 mutations. Cartilage growth plate histological abnormalities included disorganized proliferating chondrocyte columns and reduced hypertrophic chondrocyte development, reflecting abnormal endochondral ossification. In vivo treatment with the TRPV4-specific inhibitor GSK2798745 markedly improved the radiographic skeletal phenotype and rescued the growth plate histological abnormalities. ScRNA-Seq of chondrocyte transcripts from affected mice identified calcium-mediated effects on multiple signaling pathways as potential mechanisms underlying the defects in linear and cartilage appositional growth observed in both mutant mice and patients. These results provide preclinical evidence demonstrating TRPV4 inhibition as a rational, mechanism-based therapeutic strategy to ameliorate disease progression and severity in the TRPV4 skeletal dysplasias.
- 23 January 2026
- Published by American Society for Clinical Investigation in JCI Insight
- Vol. 11 (2)
Open AccessSmall molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice
The TRPV4 skeletal dysplasias are characterized by short stature, short limbs with prominent large joints, and progressive scoliosis. They result from dominant missense mutations that activate the TRPV4 calcium permeable ion channel. As a platform to understand the mechanism of disease and to test the hypothesis that channel inhibition could treat these disorders, we developed a knock-in mouse that conditionally expresses the p.R594H Trpv4 mutation. Embryonic, chondrocyte-specific induction of the mutation using Col2a1-Cre resulted in a skeletal dysplasia affecting the long bones, spine, and craniofacial skeletal elements, consistent with the human skeletal dysplasia phenotypes produced by TRPV4 mutations. Cartilage growth plate histological abnormalities included disorganized proliferating chondrocyte columns and reduced hypertrophic chondrocyte development, reflecting abnormal endochondral ossification. In vivo treatment with the TRPV4-specific inhibitor GSK2798745 markedly improved the radiographic skeletal phenotype and rescued the growth plate histological abnormalities. ScRNA-Seq of chondrocyte transcripts from affected mice identified calcium-mediated effects on multiple signaling pathways as potential mechanisms underlying the defects in linear and cartilage appositional growth observed in both mutant mice and patients. These results provide preclinical evidence demonstrating TRPV4 inhibition as a rational, mechanism-based therapeutic strategy to ameliorate disease progression and severity in the TRPV4 skeletal dysplasias.