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Michael C. Kruer

Researcher at University of Arizona

Publications -  109
Citations -  9492

Michael C. Kruer is an academic researcher from University of Arizona. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 31, co-authored 88 publications receiving 8163 citations. Previous affiliations of Michael C. Kruer include St. Joseph's Hospital and Medical Center & Translational Genomics Research Institute.

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Journal ArticleDOI

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Daniel J. Klionsky, +2522 more
- 21 Jan 2016 - 
TL;DR: In this paper, the authors present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macro-autophagy 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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Encephalitis with refractory seizures, status epilepticus, and antibodies to the GABAA receptor: a case series, characterisation of the antigen, and analysis of the effects of antibodies

Mar Petit-Pedrol, +19 more
- 01 Mar 2014 - 
TL;DR: High titres of serum and CSF GABAA receptor antibodies are associated with a severe form of encephalitis with seizures, refractory status epilepticus, or both and are potentially treatable.
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Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Tobias B. Haack, +34 more
- 07 Dec 2012 - 
TL;DR: De novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctive NBIA phenotype, and it is suggested that this clinically recognizable disorder be named accordingly as beta- Propeller protein-associated neurodegeneration.
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Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling

Lot Snijders Blok, +86 more
- 06 Aug 2015 - 
TL;DR: A consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway is demonstrated, and a differential effect by gender is shown, possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDx3X mutations.
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Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

Michael C. Kruer, +15 more
- 01 Nov 2010 - 
TL;DR: The discovery of a novel gene is reported that leads to a distinct form of NBIA, a distinctive phenotype of neurodegenerative disease for which several causative genes have been identified.