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  1. Article

    Open Access

    Disease pathology signatures in a mouse model of Mucopolysaccharidosis type IIIB

    Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare and devastating childhood-onset lysosomal storage disease caused by complete loss of function of the lysosomal hydrolase α-N-acetylglucosaminidase. The lack of...

    Ralitsa Petrova, Abhijeet R. Patil, Vivian Trinh, Kathryn E. McElroy in Scientific Reports (2023)

  2. No Access

    Article

    Intrinsically disordered domain of transcription factor TCF-1 is required for T cell developmental fidelity

    In development, pioneer transcription factors access silent chromatin to reveal lineage-specific gene programs. The structured DNA-binding domains of pioneer factors have been well characterized, but whether a...

    Naomi Goldman, Aditi Chandra, Isabelle Johnson, Matthew A. Sullivan in Nature Immunology (2023)

  3. No Access

    Article

    Single-cell expression profiling of islets generated by the Human Pancreas Analysis Program

    Abhijeet R. Patil, Jonathan Schug, Ali Naji, Klaus H. Kaestner in Nature Metabolism (2023)

  4. Article

    Open Access

    Alternative splicing of the SUMO1/2/3 transcripts affects cellular SUMOylation and produces functionally distinct SUMO protein isoforms

    Substantial increases in the conjugation of the main human SUMO paralogs, SUMO1, SUMO2, and SUMO3, are observed upon exposure to different cellular stressors, and such increases are considered important to fac...

    Myriah L. Acuña, Andrea García-Morin, Rebeca Orozco-Sepúlveda in Scientific Reports (2023)

  5. No Access

    Article

    Single-cell multi-omics analysis of human pancreatic islets reveals novel cellular states in type 1 diabetes

    Type 1 diabetes (T1D) is an autoimmune disease in which immune cells destroy insulin-producing beta cells. The aetiology of this complex disease is dependent on the interplay of multiple heterogeneous cell typ...

    Maria Fasolino, Gregory W. Schwartz, Abhijeet R. Patil, Aanchal Mongia in Nature Metabolism (2022)