Publications by authors named "Nancy Leong"

Article Synopsis
  • FLVCR1 is a protein involved in transporting essential compounds like heme and choline, with mutations linked to serious developmental disorders and neurodegenerative conditions in humans.
  • Researchers identified 30 patients with biallelic FLVCR1 variants who displayed severe developmental issues, including brain malformations and other complications, paralleling symptoms seen in mouse models and conditions like Diamond-Blackfan anemia (DBA).
  • The findings emphasize that FLVCR1 variants could cause a wide range of health problems, underscoring the need for diverse genetic testing and consideration of animal model data in understanding human genetic disorders.
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Human feline leukaemia virus subgroup C receptor-related proteins 1 and 2 (FLVCR1 and FLVCR2) are members of the major facilitator superfamily. Their dysfunction is linked to several clinical disorders, including PCARP, HSAN and Fowler syndrome. Earlier studies concluded that FLVCR1 may function as a haem exporter, whereas FLVCR2 was suggested to act as a haem importer, yet conclusive biochemical and detailed molecular evidence remained elusive for the function of both transporters.

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Accumulation of sphingolipids, especially sphingosines, in the lysosomes is a key driver of several lysosomal storage diseases. The transport mechanism for sphingolipids from the lysosome remains unclear. Here, we identified SPNS1, which shares the highest homology to SPNS2, a sphingosine-1-phosphate (S1P) transporter, functions as a transporter for lysolipids from the lysosome.

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encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and mitochondrial isoforms implicated in heme, choline, and ethanolamine transport. While knockout mice die with skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia, rare biallelic pathogenic variants are linked to childhood or adult-onset neurodegeneration of the retina, spinal cord, and peripheral nervous system.

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Mutations in the orphan transporter MFSD7c (also known as Flvcr2), are linked to Fowler syndrome. Here, we used Mfsd7c knockout (Mfsd7c) mice and cell-based assays to reveal that MFSD7c is a choline transporter at the blood-brain barrier (BBB). We performed comprehensive metabolomics analysis and detected differential changes of metabolites in the brains and livers of Mfsd7cembryos.

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The aim of this study was to identify the challenges encountered by dental assisting students, especially those from underrepresented racial and ethnic groups (UREG), that affected their achieving academic success. In 2016, directors of the nine northern California dental assisting programs were contacted via email to explain the study and request an opportunity to administer the 26-item survey to their currently enrolled students. Student responses were entered into a survey research program, which tabulated the data and calculated the frequency of responses to each item.

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