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List of works by Rashmi Kothary

A 1.3kb promoter fragment confers spatial and temporal expression of utrophin A mRNA in mouse skeletal muscle fibers

scientific article published in June 2005

A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology.

scientific article published on 8 November 2011

A new in vitro mouse oligodendrocyte precursor cell migration assay reveals a role for integrin-linked kinase in cell motility

scientific article published in February 2016

A novel function for the survival motoneuron protein as a translational regulator

scientific article published on 06 November 2012

A novel whole-cell lysate kinase assay identifies substrates of the p38 MAPK in differentiating myoblasts.

scientific article published on 6 March 2012

A reduction in the human adenovirus virion size through use of a shortened fibre protein does not enhance muscle transduction following systemic or localised delivery in mice.

scientific article published on 20 September 2014

A sequence motif found in aDrosophilaheterochromatin protein is conserved in animals and plants ⬇️

scientific article published on February 25, 1991

Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

scientific article published on 26 July 2019

Alterations in myelination in the central nervous system of dystonia musculorum mice

scientific article published on 01 July 2002

An induction gene trap for identifying a homeoprotein-regulated locus.

scientific article published in July 2000

At the "junction" of spinal muscular atrophy pathogenesis: the role of neuromuscular junction dysfunction in SMA disease progression.

scientific article published on August 2013

Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A

scientific article

Biochemical, proteomic, structural, and thermodynamic characterizations of integrin-linked kinase (ILK): cross-validation of the pseudokinase.

scientific article

Bpag1 localization to actin filaments and to the nucleus is regulated by its N-terminus

scientific journal article

Cdx2 regulation of posterior development through non-Hox targets

scientific article published on 11 November 2009

Cell-lineage-specific expression of the mouse hsp68 gene during embryogenesis

scientific article published on 01 June 1987

Cellular and molecular biology of neuronal dystonin.

scientific article

Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI

scientific article published on 09 December 2019

Characterization of liver histopathology in a transgenic mouse model expressing genotype 1a hepatitis C virus core and envelope proteins 1 and 2.

scientific article

Characterization of the neural crest defect in Splotch (Sp1H) mutant mice using a lacZ transgene

scientific article published in March 1993

Characterization of transgene expression and Cre recombinase activity in a panel of Thy-1 promoter-Cre transgenic mice

scientific article published in June 2002

Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity

scientific journal article

Cloning and characterization of mouse ACF7, a novel member of the dystonin subfamily of actin binding proteins

scientific article published in November 1996

Cloning and characterization of the neural isoforms of human dystonin

scientific article

Conservation, variability and the modeling of active protein kinases

scientific article

Corrigendum: Establishment of a cone photoreceptor transplantation platform based on a novel cone-GFP reporter mouse line.

scientific article

Cytoskeletal Linker Protein Dystonin Is Not Critical to Terminal Oligodendrocyte Differentiation or CNS Myelination

scientific article published on 17 February 2016

Defects in neuromuscular junction remodelling in the Smn(2B/-) mouse model of spinal muscular atrophy

scientific article published on 30 August 2012

Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology.

scientific article

Derivation of enriched oligodendrocyte cultures and oligodendrocyte/neuron myelinating co-cultures from post-natal murine tissues.

scientific article published on 21 August 2011

Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: implications for spinal muscular atrophy therapy

scientific article published in January 2003

Differential induction of muscle atrophy pathways in two mouse models of spinal muscular atrophy

scientific article published on 28 June 2016

Differentiation potential of primary myogenic cells derived from skeletal muscle of dystonia musculorum mice

scientific article published in August 2002

Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice

scientific article

Dissection of the transversus abdominis muscle for whole-mount neuromuscular junction analysis

scientific article published on 11 January 2014

Distinct roles for Ste20-like kinase SLK in muscle function and regeneration ⬇️

scientific article published on July 1, 2013

Dominant-negative beta1 integrin mice have region-specific myelin defects accompanied by alterations in MAPK activity

scientific article published in June 2006

Dystonin Is Essential for Maintaining Neuronal Cytoskeleton Organization ⬇️

scientific article published on April 1, 1998

Dystonin deficiency reduces taste buds and fungiform papillae in the anterior part of the tongue

scientific article published on 6 December 2006

Dystonin expression in the developing nervous system predominates in the neurons that degenerate in dystonia musculorum mutant mice

scientific article published in December 1995

Dystonin/Bpag1--a link to what?

scientific article published on 01 December 2007

Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy

scientific article published on 11 October 2013

Establishment of a cone photoreceptor transplantation platform based on a novel cone-GFP reporter mouse line

scientific article

Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy

scientific article

Functional and Genetic Analysis of Neuronal Isoforms of BPAG1.

scientific article

Genetic alterations at the Bpag1 locus in dt mice and their impact on transcript expression

scientific article published on 08 December 2005

Glucose metabolism and pancreatic defects in spinal muscular atrophy

scientific article

HSAN-VI: A spectrum disorder based on dystonin isoform expression

scientific article published on 02 January 2020

Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology

scientific article published on 10 October 2005

Immune dysregulation may contribute to disease pathogenesis in spinal muscular atrophy mice

scientific article

Impaired fast axonal transport in neurons of the sciatic nerves from dystonia musculorum mice

scientific article published in August 2003

Impaired kidney structure and function in spinal muscular atrophy

scientific article published on 12 August 2019

Inducibility of heat shock polypeptides in cells containing hyperacetylated histones

scientific article published on 01 November 1984

Inhibitory milieu at the multiple sclerosis lesion site and the challenges for remyelination

scientific article published on 23 August 2019

Integrin-linked kinase regulates oligodendrocyte cytoskeleton, growth cone, and adhesion dynamics

scientific article published on 28 November 2015

Integrin-linked kinase regulates process extension in oligodendrocytes via control of actin cytoskeletal dynamics

scientific article published in June 2013

Low fat diets increase survival of a mouse model of spinal muscular atrophy

scientific article published on 13 October 2019

MiRNA-145-5p prevents differentiation of oligodendrocyte progenitor cells by regulating expression of myelin gene regulatory factor

scientific article published on 30 June 2020

Mice with podocyte-specific overexpression of wild type alpha-actinin-4 are healthy controls for K256E-alpha-actinin-4 mutant transgenic mice

scientific article

Microtubule stability, Golgi organization, and transport flux require dystonin-a2-MAP1B interaction.

scientific article published on 12 March 2012

More than a bystander: the contributions of intrinsic skeletal muscle defects in motor neuron diseases.

scientific article published on 18 December 2013

Motor unit abnormalities in Dystonia musculorum mice

scientific article

Mouse dystrophin enhancer preferentially targets lacZ expression in skeletal and cardiac muscle.

scientific article

Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late

scientific article

Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy

scientific article published on April 2014

Neurodevelopmental abnormalities in neurosphere-derived neural stem cells from SMN-depleted mice

scientific article published on 01 October 2008

Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy

scientific article published in January 2010

Neuronal dystonin isoform 2 is a mediator of endoplasmic reticulum structure and function

scientific article published on 21 December 2011

New insights into SMA pathogenesis: immune dysfunction and neuroinflammation

scientific article published on 18 May 2017

Oligodendrocyte development and CNS myelination are unaffected in a mouse model of severe spinal muscular atrophy

scientific article published on 9 January 2017

Oligodendrocytes in a Nutshell.

scientific article published on September 2015

Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy

scientific article

Physiological maturation of photoreceptors depends on the voltage-gated sodium channel NaV1.6 (Scn8a).

scientific article published in May 2005

Position effects in mice carrying a lacZ transgene in cis with the -globin LCR can be explained by a graded model ⬇️

scientific article published on November 1, 1997

Prenatal onset of Axonopathy inDystonia musculorum mice ⬇️

scientific article published on January 1, 1998

Production of mouse chimeras by injection of embryonic stem cells into the perivitelline space of one-cell stage embryos

scientific article

Re: "A possible cellular mechanism of neuronal loss in the dorsal root ganglia of dystonia musculorum (dt) mice"

review scientific article published on 01 March 2007

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model

scientific article published on 22 January 2010

SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis.

scientific article

Six1 Regulates MyoD Expression in Adult Muscle Progenitor Cells ⬇️

scientific article published on June 28, 2013

Smn deficiency causes neuritogenesis and neurogenesis defects in the retinal neurons of a mouse model of spinal muscular atrophy.

scientific article

Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity

scientific article published on 01 January 2007

Snf2h-mediated chromatin organization and histone H1 dynamics govern cerebellar morphogenesis and neural maturation

scientific article

Spectrin repeat proteins in the nucleus.

scientific article

Splicing arrays reveal novel RBM10 targets, including SMN2 pre-mRNA.

scientific article published on 20 July 2017

Supraphysiological expression of survival motor neuron protein from an adenovirus vector does not adversely affect cell function.

scientific article published on 8 April 2013

Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy.

scientific article published on 24 October 2017

The Rb/E2F pathway modulates neurogenesis through direct regulation of the Dlx1/Dlx2 bigene cluster.

scientific article published in June 2012

The Smn-independent beneficial effects of trichostatin A on an intermediate mouse model of spinal muscular atrophy

scientific article

The Splotch mutation interferes with muscle development in the limbs

article

The genomic structure of an insertional mutation in the dystonia musculorum locus.

scientific article published on April 1994

The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1.

scientific article

The mouse dystrophin muscle enhancer-1 imparts skeletal muscle, but not cardiac muscle, expression onto the dystrophin Purkinje promoter in transgenic mice

scientific article published on 22 September 2004

The mouse dystrophin muscle promoter/enhancer drives expression of mini-dystrophin in transgenic mdx mice and rescues the dystrophy in these mice

scientific article published on 27 June 2006

The myogenic kinome: protein kinases critical to mammalian skeletal myogenesis.

scientific article published on 08 September 2011

The number of nociceptors in the trigeminal ganglion but not proprioceptors in the mesencephalic trigeminal tract nucleus is reduced in dystonin deficient dystonia musculorum mice

scientific article published on 3 June 2008

The proteolipid protein promoter drives expression outside of the oligodendrocyte lineage during embryonic and early postnatal development

scientific article

The survival of vagal and glossopharyngeal sensory neurons is dependent upon dystonin

scientific article

The tkNeo gene, but not the pgkPuro gene, can influence the ability of the beta-globin LCR to enhance and confer position-independent expression onto the beta-globin gene

scientific article published on 01 November 2000

The utrophin A 5'-UTR drives cap-independent translation exclusively in skeletal muscles of transgenic mice and interacts with eEF1A2

scientific article published on 6 January 2010

Tissue specific loss of proliferative capacity of parthenogenetic cells in fetal mouse chimeras

scientific article

Trafficking of macromolecules and organelles in cultured Dystonia musculorum sensory neurons is normal

scientific article published in February 2006

Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn (2b/-) mouse model of spinal muscular atrophy.

scientific article

Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.

scientific article published on 30 December 2013

Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction

scientific article

Unusual cell specific expression of a major human cytomegalovirus immediate early gene promoter-lacZ hybrid gene in transgenic mouse embryos

scientific article

Use of Cre/loxP recombination to swap cell binding motifs on the adenoviral capsid protein IX ⬇️

scientific article published on October 2, 2011

Voluntary Running Triggers VGF-Mediated Oligodendrogenesis to Prolong the Lifespan of Snf2h-Null Ataxic Mice

scientific article published in October 2016

Wnt11 promotes cardiomyocyte development by caspase-mediated suppression of canonical Wnt signals

scientific article

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