Carlie N. Abdala
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Carlie N. Abdala has a total of 10 co-authors. Here are the top co-authors by number of shared publications:
- Cassandre Labelle-Dumais
Department of Ophthalmology, University of California San Francisco, San Francisco, CA 94158, USA
1 shared publication - Douglas B. Gould
Department of Ophthalmology, Department of Anatomy, Cardiovascular Research Institute, Bakar Aging Research Institute, and Institute for Human Genetics, University of California, San Francisco, USA
1 shared publication - Mao Mao
Department of Ophthalmology, University of California San Francisco, San Francisco, CA 94158, USA
1 shared publication - Matthew D. Lebedev
Department of Ophthalmology, University of California San Francisco, San Francisco, CA 94158, USA
1 shared publication - Megan E. Smith
University of California San Francisco 1 Department of Ophthalmology San Francisco, CA
1 shared publication - Uma B. Gaffney
University of California San Francisco 1 Department of Ophthalmology San Francisco, CA
1 shared publication
Latest Publications
- 25 April 2025
- Published by Rockefeller University Press in Journal of Cell Biology
- Vol. 224 (6)
A multifunction murine Col4a1 allele reveals potential gene therapy parameters for Gould syndrome
Basement membranes (BMs) are specialized extracellular matrix (ECM) structures essential for organ morphogenesis, architecture, and function. BM composition and properties vary between tissues, developmental stages, and disease states, and there is only a rudimentary understanding of BM dynamics. Here, we introduce a versatile mouse model carrying a multifunctional dual-color fluorescence tagged allele with knockout potential for the fundamental BM component type IV collagen alpha 1 (COL4A1). This allele enables the characterization of cell type- and time-specific contributions to BMs and the generation of a conditional Col4a1 null allele. We demonstrate the utility of this unique genetic resource in providing clinically relevant insights for individuals with Gould syndrome – a multisystem disorder caused by COL4A1 and COL4A2 mutations. We show active COL4A1 turnover in postnatal cerebrovascular BMs, identifying a potential interventional window for cerebrovascular manifestations associated with Gould syndrome. We also demonstrate that heterozygous Col4a1 deletion is significantly less pathogenic than dominant Col4a1 missense mutations, which has important implications for gene therapy.
- 25 April 2025
- Published by Rockefeller University Press in Journal of Cell Biology
- Vol. 224 (6)
A multifunction murine Col4a1 allele reveals potential gene therapy parameters for Gould syndrome
Basement membranes (BMs) are specialized extracellular matrix (ECM) structures essential for organ morphogenesis, architecture, and function. BM composition and properties vary between tissues, developmental stages, and disease states, and there is only a rudimentary understanding of BM dynamics. Here, we introduce a versatile mouse model carrying a multifunctional dual-color fluorescence tagged allele with knockout potential for the fundamental BM component type IV collagen alpha 1 (COL4A1). This allele enables the characterization of cell type- and time-specific contributions to BMs and the generation of a conditional Col4a1 null allele. We demonstrate the utility of this unique genetic resource in providing clinically relevant insights for individuals with Gould syndrome – a multisystem disorder caused by COL4A1 and COL4A2 mutations. We show active COL4A1 turnover in postnatal cerebrovascular BMs, identifying a potential interventional window for cerebrovascular manifestations associated with Gould syndrome. We also demonstrate that heterozygous Col4a1 deletion is significantly less pathogenic than dominant Col4a1 missense mutations, which has important implications for gene therapy.