Jayasimman Rajendran
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View article: Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism
Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism Open
Dominant defects in CHCHD10, a mitochondrial intermembrane space protein, lead to a range of neurological and muscle disease phenotypes including amyotrophic lateral sclerosis. Many patients present with spinal muscular atrophy Jokela type…
View article: mTORC1-dependent SOCE activity regulates synaptic gene expression and muscle response to denervation
mTORC1-dependent SOCE activity regulates synaptic gene expression and muscle response to denervation Open
Neuromuscular junction (NMJ) instability is central in muscle dysfunction occurring in neuromuscular disorders and aging. NMJ maintenance requires regionalized regulation of synaptic genes, previously associated with Ca 2+ -dependent pathw…
View article: Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis
Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis Open
Defective lysosomal acidification is responsible for a large range of multi-systemic disorders associated with impaired autophagy. Diseases caused by mutations in the VMA21 gene stand as exceptions, specifically affecting skeletal muscle (…
View article: Small mitochondrial protein NERCLIN regulates cardiolipin homeostasis and mitochondrial ultrastructure
Small mitochondrial protein NERCLIN regulates cardiolipin homeostasis and mitochondrial ultrastructure Open
Cardiolipin (CL) is an essential phospholipid for mitochondrial structure and function. Here, we present a small mitochondrial protein, NERCLIN, as a negative regulator of CL homeostasis and mitochondrial ultrastructure. Primate-specific N…
View article: Inter-organellar and systemic responses to impaired mitochondrial matrix protein import in skeletal muscle
Inter-organellar and systemic responses to impaired mitochondrial matrix protein import in skeletal muscle Open
Effective protein import from cytosol is critical for mitochondrial functions and metabolic regulation. We describe here the mammalian muscle-specific and systemic consequences to disrupted mitochondrial matrix protein import by targeted d…
View article: Small mitochondrial protein NERCLIN regulates cardiolipin homeostasis and mitochondrial ultrastructure
Small mitochondrial protein NERCLIN regulates cardiolipin homeostasis and mitochondrial ultrastructure Open
Cardiolipin (CL) is an essential phospholipid for mitochondrial structure and function. Here we present a small mitochondrial protein, NERCLIN, as a negative regulator of CL homeostasis and mitochondrial ultrastructure. Primate-specific NE…
View article: A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice
A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice Open
View article: Interventions to improve mitochondrial function in a mouse model of GRACILE syndrome, a complex III disorder
Interventions to improve mitochondrial function in a mouse model of GRACILE syndrome, a complex III disorder Open
A rare homozygous BCS1Lc.A232G (Ser78Gly, p.S78G) mutation in infants causes GRACILE syndrome, which is a severe mitochondrial respiratory chain complex III (CIII) disorder resulting in multiple organ dysfunction and early lethality. Patho…
View article: Alternative oxidase‐mediated respiration prevents lethal mitochondrial cardiomyopathy
Alternative oxidase‐mediated respiration prevents lethal mitochondrial cardiomyopathy Open
Alternative oxidase (AOX) is a non-mammalian enzyme that can bypass blockade of the complex III-IV segment of the respiratory chain (RC). We crossed a Ciona intestinalis AOX transgene into RC complex III (cIII)-deficient Bcs1l
View article: Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation
Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation Open
View article: Effect of High-Carbohydrate Diet on Plasma Metabolome in Mice with Mitochondrial Respiratory Chain Complex III Deficiency
Effect of High-Carbohydrate Diet on Plasma Metabolome in Mice with Mitochondrial Respiratory Chain Complex III Deficiency Open
Mitochondrial disorders cause energy failure and metabolic derangements. Metabolome profiling in patients and animal models may identify affected metabolic pathways and reveal new biomarkers of disease progression. Using liver metabolomics…