Search Results - "Roberds, S L"
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BACE knockout mice are healthy despite lacking the primary β-secretase activity in brain: implications for Alzheimer's disease therapeutics
Published in Human molecular genetics (01-06-2001)“…Alzheimer's disease (AD) is a neurodegenerative disorder characterized by accumulation of amyloid plaques and neurofibrillary tangles in the brain. The major…”
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Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)
Published in The Journal of biological chemistry (15-11-1993)“…The 50-kDa dystrophin-associated glycoprotein (50-DAG) is a component of the dystrophin-glycoprotein complex, which links the muscle cytoskeleton to the…”
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3
Cloning and Tissue-Specific Expression of Five Voltage-Gated Potassium Channel cDNAs Expressed in Rat Heart
Published in Proceedings of the National Academy of Sciences - PNAS (01-03-1991)“…Five distinct K+channel cDNA molecules (RK1 to RK5) were cloned from either rat heart or rat aorta cDNA libraries. Four of the channels, RK1 to RK4, are…”
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Time-, voltage-, and state-dependent block by quinidine of a cloned human cardiac potassium channel
Published in Molecular pharmacology (01-02-1992)“…The interaction of quinidine with a cloned human cardiac potassium channel (HK2) expressed in a stable mouse L cell line was studied using the whole-cell…”
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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity
Published in Nature genetics (01-06-1995)“…Marked deficiency of muscle adhalin, a 50 kDa sarcolemmal dystrophin-associated glycoprotein, has been reported in severe childhood autosomal recessive…”
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Disruption of the dystrophin-glycoprotein complex in the cardiomyopathic hamster
Published in The Journal of biological chemistry (05-06-1993)“…Cardiomyopathies are a diverse group of primary cardiac diseases, most of which have a poorly understood etiology. One type of hereditary cardiomyopathy is…”
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A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
Published in Human molecular genetics (01-07-1995)“…Autosomal recessive limb-girdle muscular dystrophies (AR LGMD) represent a heterogeneous group of diseases with a wide spectrum of clinical variability,…”
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Clustering and Immobilization of Acetylcholine Receptors by the 43-kD Protein: A Possible Role for Dystrophin-Related Protein
Published in The Journal of cell biology (01-11-1993)“…Recombinant acetylcholine receptors (AChRs) expressed on the surface of cultured fibroblasts become organized into discrete membrane domains when the 43-kD…”
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Ultrastructural localization of adhalin, alpha-dystroglycan and merosin in normal and dystrophic muscle
Published in Neuropathology and applied neurobiology (01-02-1996)“…Adhalin and alpha-dystroglycan are two components of a complex of proteins that, in conjunction with dystrophin, provide a link between the subsarcolemmal…”
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Non-Muscle α-Dystroglycan Is Involved in Epithelial Development
Published in The Journal of cell biology (01-07-1995)“…The dystroglycan complex is a transmembrane linkage between the cytoskeleton and the basement membrane in muscle. One of the components of the complex,…”
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Disease mechanisms revealed by transcription profiling in SOD1-G93A transgenic mouse spinal cord
Published in Annals of neurology (01-12-2001)“…Mutations of copper,zinc‐superoxide dismutase (cu,zn SOD) are found in patients with a familial form of amyotrophic lateral sclerosis. When expressed in…”
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A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering
Published in Cell (03-06-1994)“…Synapse formation is characterized by the accumulation of molecules at the site of contact between pre- and postsynaptic cells. Agrin, a protein implicated in…”
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Functional characterization of RK5, a voltage-gated K + channel cloned from the rat cardiovascular system
Published in FEBS letters (16-12-1991)“…A voltage-sensitive K + channel previously cloned from rat heart designated RK5 (rat Kv4.2) (Roberds and Tamkun, 1991, Proc. Natl. Acad. Sci. USA 88,…”
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Developmental expression of cloned cardiac potassium channels
Published in FEBS letters (24-06-1991)“…Cardiac K + channels are responsible for repolarization of the action potential and are the targets of several antiarrhythmic drugs. This study examines the…”
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Adhalin gene polymorphism
Published in Human molecular genetics (01-12-1994)Get more information
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A cluster of novel serotonin receptor 3-like genes on human chromosome 3
Published in Gene (13-11-2003)“…The ligand-gated ion channel family includes receptors for serotonin (5-hydroxytryptamine, 5-HT), acetylcholine, GABA, and glutamate. Drugs targeting subtypes…”
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Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
Published in Cell (26-08-1994)“…Adhalin, the 50 kDa dystrophin-associated glycoprotein, is deficient in skeletal muscle of patients having severe childhood autosomal recessive muscular…”
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The expression of dystrophin-associated glycoproteins during skeletal muscle degeneration and regeneration. An immunofluorescence study
Published in Journal of neuropathology and experimental neurology (01-07-1995)“…The distribution and expression of dystrophin and three of the dystrophin-associated glycoproteins (DAG), alpha-dystroglycan (156 kDa DAG), beta-dystroglycan…”
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Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex
Published in Neuron (Cambridge, Mass.) (01-07-1995)“…The 43 kDa AChR-associated protein rapsyn is required for the clustering of nicotinic acetylcholine receptors (AChRs) at the developing neuromuscular junction,…”
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Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia
Published in Developmental medicine and child neurology (01-03-1996)“…The clinical, biochemical and histochemical features of 14 patients (nine females and five males) with severe childhood autosomal recessive muscular dystrophy…”
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