William L. Gitomer
University of Texas Southwestern Medical Center
11 Papers
82 Citations
William L. Gitomer is an academic researcher from University of Texas Southwestern Medical Center. The author has contributed to research in topics: Cystinuria & NAD+ kinase. The author has an hindex of 7, co-authored 11 publications.
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Papers
Disease Progression in a Transgenic Model of Familial Amyotrophic Lateral Sclerosis Is Dependent on Both Neuronal and Non-Neuronal Zinc Binding Proteins
Krishna Puttaparthi,William L. Gitomer,Uma Maheswari Krishnan,Marjatta Son,Bhagya Rajendran,Jeffrey L. Elliott +5 more
TL;DR: The results indicate that the disease course in G93A SOD1 mice is dependent on levels of metallothionein expression and also indicate that primary changes within non-neuronal cells can affect mutant S OD1-induced disease and do so in ways distinct from primary neuronal changes.
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Mapping a gene defect in absorptive hypercalciuria to chromosome 1q23.3-q24.
TL;DR: A trait associated with intestinal hyperabsorption of calcium in a severe form of absorptive hypercalciuria has been mapped to chromosome 1q23.3-q24.3, indicating that an inherited genetic defect is one likely cause of AH.
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Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria
TL;DR: This work has studied the occurrence of mutations in the SLC3A1 gene, which codes for a dibasic amino acid transporter-like protein, in 33 unrelated cystinurics and found mutations in 34 of the 66 chromosomes studied.
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Recent advances in the biochemical and molecular biological basis of cystinuria
TL;DR: Type I cyst inuria appears to be due to mutations in the SLC3A1 gene, while the molecular genetic determinants of types II and III cystinuria remain to be delineated.
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335-base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuria.
TL;DR: This communication reports a unique deletion mutation in the SLC3A1 cDNA, 335 nucleotides in length, reported in cystinuric patients.
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