Rare Diseases: Models & Mechanisms Network

Profile

Shutt, Tim

Basic Information

First Name
Last Name
Organization
Department

Contact Information

Email timothy.shutt@ucalgary.ca
Phone 403-220-6114

About My Research

Human Cell Models Research Focus

We work primarily with cultured human cells, in particular patient fibroblasts, which are an excellent model for studying mitochondrial dysfunction.

Gene ID Symbol Name Tier
23761 PISD phosphatidylserine decarboxylase TIER1
55288 RHOT1 ras homolog family member T1 TIER2
9927 MFN2 mitofusin 2 TIER1
55154 MSTO1 misato mitochondrial distribution and morphology regulator 1 TIER1
6050 RNH1 ribonuclease/angiogenin inhibitor 1 TIER2
26235 FBXL4 F-box and leucine rich repeat protein 4 TIER1
10059 DNM1L dynamin 1 like TIER1
644016 HSPD1P10 heat shock protein family D (Hsp60) member 1 pseudogene 10 TIER2
9361 LONP1 lon peptidase 1, mitochondrial TIER1
131118 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 TIER1
65991 FUNDC2 FUN14 domain containing 2 TIER1
6770 STAR steroidogenic acute regulatory protein TIER1
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1 TIER2
79784 MYH14 myosin heavy chain 14 TIER1
Term Name Aspect Overlap Size

Publications

PubMed ID Title
32380723 Aberrant Mitochondrial Morphology and Function in the BTBR Mouse Model of Autism Is Improved by T...
31442532 Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel...
30663413 Sex-dependent and chronic alterations in behavior and mitochondrial function in a rat model of pe...
32116020 Perturbed mitochondrial dynamics, an emerging aspect of epithelial-microbe interactions.
28494652 The Keap1-Nrf2 Stress Response Pathway Promotes Mitochondrial Hyperfusion Through Degradation of ...
33810506 Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics.
31803760 SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With ...
31356885 Mitochondrial Dynamics in Signaling and Disease.
31463572 MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvem...
28082920 Tissue Specific Impacts of a Ketogenic Diet on Mitochondrial Dynamics in the BTBRT+tf/j
30555336 Mesenchymal Stem Cells Shift Mitochondrial Dynamics and Enhance Oxidative Phosphorylation in Reci...
32291139 Reciprocal Regulation of Mitochondrial Fission and Fusion.
33718843 Impaired phosphatidylethanolamine metabolism activates a reversible stress response that detects ...
31452143 Advances Towards Therapeutic Approaches for mtDNA Disease.
33171986 Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.
32298841 Perturbed Mitochondrial Dynamics Is a Novel Feature of Colitis That Can Be Targeted to Lessen Dis...
31231018 The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropa...
30858161 PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matt...
33634751 Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1<...
32992049 Crohn's Disease Pathobiont Adherent-Invasive E coli Disrupts Epithelial Mitochondrial Networks Wi...
27009068 The mitochondrial division inhibitor Mdivi-1 rescues mammalian neurons from anesthetic-induced cy...
33633281 A synthetic peptide rescues rat cortical neurons from anesthetic-induced cell death, perturbation...
32046906 Reversible Mitochondrial Fragmentation in iPSC-Derived Cardiomyocytes From Children With DCMA, a ...
31631044 Neuropathy due to impaired axonal transport of non-fragmented mitochondria in MYH14 mutation carr...