Rashmi Parihar

• Indian Institute of Technology Kanpur

Lafora disease (LD) is a life-threatening autosomal recessive and progressive neurodegenerative disorder that primarily affects adolescents, resulting in mortality within a decade of onset. The symptoms of LD include epileptic seizures, ataxia, dementia, and psychosis. The underlying pathology involves the presence of abnormal glycogen inclusions i...

Pesticides entering our body, either directly or indirectly, are known to increase the risk of developing neurodegenerative disorders. The pesticide-induced animal models of Parkinson's disease and Alzheimer's disease recapitulates many of the pathologies seen in human patients and have become popular models for studying disease biology. However, t...

Huntington disease (HD) is a genetic disorder caused by CAG expansion mutation in Huntingtin gene leading to polyglutamine (PolyQ) expansion in the N-terminus part of Huntingtin (Httex1). Expanded PolyQ, through complex aggregation pathway forms aggregate in neurons and present a potential therapeutic target. Here we show Httex1 aggregation suppres...

The heat shock response is a highly conserved cellular stress response pathway that protects cells against stress-induced damages. The heat shock response is characterized by the activation of the heat shock factor, a transcription factor, which in turn regulate the expression of heat shock proteins which help the cells to recover from the stress-i...

The image of anti-Myc blot of figure 2C (third panel; Malin-Myc [C26S]) was inadvertently used once again for the γ-tubulin loading control of figure 2B.

The progressive myoclonic epilepsy of Lafora or Lafora disease (LD) is a neurodegenerative disorder characterized by recurrent seizures and cognitive deficits. With typical onset in the late childhood or early adolescence, the patients show progressive worsening of the disease symptoms, leading to death in about 10 years. It is an autosomal recessi...

A tetrapeptide containing dehydrophenylalanine residue exhibits unusual enhanced fluorescence emission intensity for Hg2+ ions selectively. In vivo studies on HeLa cells revealed that this peptide could be used to study Hg2+ trafficking in mammalian cells. The results demonstrate that Hg2+ can interact with sulfurless peptide backbones, if the latt...

The heat shock response is a conserved defense mechanism that protects cells from physiological stress, including the thermal stress. Besides the activation of heat shock protein genes, the heat shock response is also known to bring about global suppression of transcription, the mechanism for which however is poorly understood. One of the intriguin...

Lafora disease (LD), an autosomal recessive and fatal form of neurodegenerative disorder, is characterized by the presence of polyglucosan inclusions in the affected tissues including the brain. LD can be caused by defects either in the EPM2A gene coding for the laforin protein phosphatase or the NHLRC1 gene coding for the malin ubiquitin ligase. S...

O-GlcNAcylation is an important post-translational modification of proteins and is known to regulate a number of pathways involved in cellular homeostasis. This involves dynamic and reversible modification of serine/threonine residues of different cellular proteins catalyzed by O-linked N-acetylglucosaminyltransferase (OGT) and O-linked N-acetylglu...

The voltage-gated sodium channels are fundamental units that evoke the action potential in excitable cells such as neurons. These channels are integral membrane proteins typically consisting of one α-subunit, which forms the larger central pore of the channel, and two smaller auxiliary β-subunits, which modulate the channel functions. Genetic alter...

A new water-soluble, multisite-coordinating ligand LH(7) was prepared by the condensation of tris(hydroxymethyl)aminomethane with 2,6-diformyl-p-cresol. LH(7) is a selective chemosensor for Cu(2+), under physiological conditions, with visual detection limits of 20 ppm (ambient light conditions) and 4 ppm (UV light conditions). LH(7) can also be use...

The EPM2A gene, defective in the fatal neurodegenerative disorder Lafora disease (LD), is known to encode two distinct proteins by differential splicing; a phosphatase active cytoplasmic isoform and a phosphatase inactive nuclear isoform. We report here the identification of three novel EPM2A splice variants with potential to code for five distinct...

A broad range of neurodegenerative disorders result from the cytotoxicity conferred by aberrantly folded mutant proteins. Intriguingly, the cytotoxicity and aggregation property of a few mutant proteins are known to be modulated by the flanking sequences. One of such modulators is the proline repeat tract. Using a mammalian cellular model, we show...

Osteoarthritis knee is one of the most prevalent disorders in the Indian subcontinent. The wide prevalence and varying features makes it a disease of disguise. Multiple etiological factors have been described. The most recent is genetic contribution in the causation of the disease. This case control study was conducted in the Department of Orthopae...

The heat shock response in human cells is associated with the transcription of satellite III repeats (SatIII) located in the 9q12 locus. Upon induction, the SatIII transcripts remain associated with the locus and recruit several transcription and splicing factors to form the nuclear stress bodies (nSBs). The nSBs are thought to modulate epigenetic...

Lafora disease (LD), a progressive form of inherited epilepsy, is associated with widespread neurodegeneration and the formation of polyglucosan bodies in the neurons. Laforin, a protein phosphatase, and malin, an E3 ubiquitin ligase, are two of the proteins that are defective in LD. We have shown recently that laforin and malin (referred together...

Proteins with homopolymeric repeat tracts are very common in the human proteome. Intriguingly, some but not all repeat tracts show length variation in the population and, in a few, the expansion of repeat tract beyond the normal length is associated with neurodegenerative and developmental disorders. In this study we have addressed questions such a...

Inflammation is one of the major components of atherosclerosis which is the underlying disorder that leads to various diseases including coronary artery disease (CAD). Genes that are involved in the inflammatory processes are therefore good candidates for the risk of CAD. Variations in the genes involved in various molecular pathways of inflammatio...