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May Christine V. Malicdan

Researcher at National Institutes of Health

Publications -  171
Citations -  9339

May Christine V. Malicdan is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Myopathy & Medicine. The author has an hindex of 35, co-authored 146 publications receiving 7005 citations. Previous affiliations of May Christine V. Malicdan include Saitama Medical University.

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Guidelines for the use and interpretation of assays for monitoring autophagy

Daniel J. Klionsky, +1287 more
- 01 Apr 2012 - 
TL;DR: These guidelines are presented for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.
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Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.

David B. Beck, +61 more
- 27 Oct 2020 - 
TL;DR: Using a genotype-driven approach, this disorder is identified that connects seemingly unrelated adult-onset inflammatory syndromes and is named the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.
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Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells.

Daniel Paull, +34 more
- 01 Sep 2015 - 
TL;DR: It is demonstrated that automated reprogramming and the pooled selection of polyclonal pluripotent cells results in high-quality, stable iPSCs, which display less line-to-line variation than either manually produced lines or lines produced through automation followed by single-colony subcloning.
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Central core disease is due to RYR1 mutations in more than 90% of patients.

Shiwen Wu, +9 more
- 01 Jun 2006 - 
TL;DR: The results indicate that CCD may be caused by RYR1 mutations in the majority of patients, and sequenced all the 106 exons encoding RYP1 with their flanking exon-intron boundaries, and identified 20 novel and 3 previously reported heterozygous missense mutations in 25 of the 27 CCD patients.
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Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.

May Christine V. Malicdan, +4 more
- 01 Jun 2009 - 
TL;DR: Results support the notion that DMRV-hIBM can potentially be treated simply by giving sialic acids, a strategy that could be applied in clinical trials in the near future, and provide evidence that hyposialylation is indeed one of the key factors in the pathomechanism of DMRVs.