Rashmi Kothary

Neurodevelopmental defects resulting from ATRX overexpression in transgenic mice.

SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1.

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

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

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

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

Transgenic expression of the activating natural killer receptor Ly49H confers resistance to cytomegalovirus in genetically susceptible mice.

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

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

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

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

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

Spectrin repeat proteins in the nucleus.

Active kinase proteome screening reveals novel signal complexity in cardiomyopathy.

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

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

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

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

A Bpag1 isoform involved in cytoskeletal organization surrounding the nucleus.

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

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

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

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

Disruption of MEF2 activity in cardiomyoblasts inhibits cardiomyogenesis.

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

Dystonin/Bpag1--a link to what?

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

Conservation, variability and the modeling of active protein kinases.

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

A SMNDelta7 read-through product confers functionality to the SMNDelta7 protein.

Dystonin/Bpag1 is a necessary endoplasmic reticulum/nuclear envelope protein in sensory neurons.

The role of conserved water molecules in the catalytic domain of protein kinases.

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

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

Bin1 SRC homology 3 domain acts as a scaffold for myofiber sarcomere assembly.

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

Cdx2 regulation of posterior development through non-Hox targets.

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

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

Identification of novel interacting protein partners of SMN using tandem affinity purification.

Hearts of dystonia musculorum mice display normal morphological and histological features but show signs of cardiac stress.

Retargeting of adenovirus vectors through genetic fusion of a single-chain or single-domain antibody to capsid protein IX.

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

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

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

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

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

Integrin signaling in oligodendrocytes and its importance in CNS myelination.

Motor unit abnormalities in Dystonia musculorum mice.

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

MAP1B and clathrin are novel interacting partners of the giant cyto-linker dystonin.

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

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

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

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

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

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

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

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

A novel role for the cytoskeletal linker protein dystonin in the maintenance of microtubule stability and the regulation of ER-Golgi transport.

Glucose metabolism and pancreatic defects in spinal muscular atrophy.

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

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

Cellular and molecular biology of neuronal dystonin.

Integrin-Linked Kinase Regulates Process Extension in Oligodendrocytes via Control of Actin Cytoskeletal Dynamics.

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

Six1 regulates MyoD expression in adult muscle progenitor cells.

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

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

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

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