Publications by authors named "J M Wambach"
Free sialic acid storage disorder (FSASD) is a rare autosomal recessive lysosomal storage disease caused by pathogenic SLC17A5 variants with variable disease severity. We performed a multidisciplinary evaluation of an adolescent female with suspected lysosomal storage disease and conducted comprehensive studies to uncover the molecular etiology. The proband exhibited intellectual disability, a storage disease gestalt, and mildly elevated urine free sialic acid levels.
View Article and Find Full Text PDFWe report three unrelated individuals with atypical clinical findings for cardio-facio-cutaneous (CFC) syndrome, all of whom have the same novel, heterozygous de novo p.H119Y (c.355 C>T) transition variant in MAP2K1, identified by exome sequencing.
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- Children's interstitial and diffuse lung diseases (chILDs) are different types of lung problems that happen in kids and can cause breathing issues.
- Kids with chILDs often show signs of lung trouble and have special images taken of their lungs that reveal abnormalities.
- Improving care for these kids has come from teamwork between different doctors and hospitals, as well as research efforts to find better ways to diagnose and treat these lung diseases.
Article Synopsis
- * Through analysis of fibroblasts and a fruit fly model, we found that these variants resulted in decreased lipid droplet formation and impaired gene expression linked to SREBP, indicating disrupted pathway function.
- * Our findings suggest that SREBF2 variants hinder the cleavage of S1P targets, causing disease symptoms by negatively affecting SREBP1 and SREBP2 activity.
Article Synopsis
- Tubulin is a key component of the cytoskeleton and has various isotypes in animals, but it's unclear how these isotypes influence microtubule structures in different cell types.
- Research on 12 patients with primary ciliary dyskinesia and mouse models uncovered variants in the tubulin isotype that disrupted the formation of centrioles and cilia, impacting microtubule dynamics.
- The study identified different variants causing distinct effects on tubulin interactions, allowing for the classification of patients into three types of ciliopathic diseases, highlighting the unique roles of specific tubulin isotypes in cellular functions.