Search Results - "WALKLEY, S. U"

Pathogenic cascades in lysosomal disease--Why so complex? by Walkley, S. U

“…Lysosomal disease represents a large group of more than 50 clinically recognized conditions resulting from inborn errors of metabolism affecting the organelle…”
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Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice by KOLLMANN, K, DAMME, M, KÄKELÄ, R, WALKLEY, S. U, BRAULKE, T, MARKMANN, S, MORELLE, W, SCHWEIZER, M, HERMANS-BORGMEYER, I, RÖCHERT, A. K, POHL, S, LÜBKE, T, MICHALSKI, J.-C

“…Mucolipidosis II is a neurometabolic lysosomal trafficking disorder of infancy caused by loss of mannose 6-phosphate targeting signals on lysosomal proteins,…”
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Animal medical genetics: a historical perspective on more than 50 years of research into genetic disorders of animals at Massey University by Jolly, RD, Dittmer, KE, Jones, BR, Worth, AJ, Thompson, KG, Johnstone, AC, Palmer, DN, Van de Water, NS, Hemsley, KM, Garrick, DJ, Winchester, BG, Walkley, SU

“…Over the last 50 years, there have been major advances in knowledge and technology regarding genetic diseases, and the subsequent ability to control them in a…”
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Bone Marrow Transplantation Corrects the Enzyme Defect in Neurons of the Central Nervous System in a Lysosomal Storage Disease by WALKLEY, S. U, THRALL, M. A, DOBRENIS, K, HUANG, M, MARCH, P. A, SIEGEL, D. A, WURZELMANN, S

“…Neuronal storage disorders are fatal neurodegenerative diseases of humans and animals that are caused by inherited deficiencies of lysosomal hydrolase…”
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Lysosomal storage diseases of animals: an essay in comparative pathology by Jolly, R.D. (Massey University, Palmerston North, New Zealand.), Walkley, S.U

“…A wide variety of inherited lysosomal hydrolase deficiencies have been reported in animals and are characterized by accumulation of sphingolipids, glycolipids,…”
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Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease by Walkley, S. U., Thrall, M. A., Haskins, M. E., Mitchell, T. W., Wenger, D. A., Brown, D. E., Dial, S., Seim, H.

“…Mucopolysaccharidosis (MPS) type VI, also known as Maroteaux–Lamy disease, is an inherited disorder of glycosaminoglycan  catabolism  caused  by  deficient …”
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Gangliosides as Modulators of Dendritogenesis in Normal and Storage Disease-affected Pyramidal Neurons by Walkley, Steven U., Zervas, Mark, Wiseman, Samson

“…Pyramidal cells initiate the formation of dendritic arbors in a prolific burst of neurite outgrowth during early cortical development. Although morphologically…”
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A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome) by Bhaumik, Mantu, Muller, Vivienne J., Rozaklis, Tina, Linda, Johnson, Dobrenis, Kostantin, Bhattacharyya, Riddhi, Wurzelmann, Sarah, Finamore, Peter, Hopwood, John J., Walkley, Steven U., Stanley, Pamela

“…Mucopolysaccharidosis type III A (MPS III A, Sanfilippo syndrome) is a rare, autosomal recessive, lysosomal storage disease characterized by accumulation of…”
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GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C by MARCH, P. A, THRALL, M. A, BROWN, D. E, MITCHELL, T. W, LOWENTHAL, A. C, WALKLEY, S. U

“…Feline Niemann-Pick disease type C (NPC) is an autosomal recessive lysosomal storage disease which shares many of the clinical, biochemical and pathological…”
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Pyramidal neurons with ectopic dendrites in storage diseases exhibit increased GM2 ganglioside immunoreactivity by Walkley, S.U.

“…Cortical pyramidal neurons in several types of neuronal storage diseases have been shown by Golgi staining to sprout axon hillock-associated dendritic…”
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Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease) by Jolly, R.D., Brown, S., Das, A.M., Walkley, S.U.

“…There are at least eight genetic entities known as the ceroid-lipofuscinoses in humans which share clinical and pathological features that have caused them to…”
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Altered vitamin E status in Niemann-Pick type C disease by Ulatowski, L., Parker, R., Davidson, C., Yanjanin, N., Kelley, T.J., Corey, D., Atkinson, J., Porter, F., Arai, H., Walkley, S.U., Manor, D.

“…Vitamin E (α-tocopherol) is the major lipid-soluble antioxidant in many species. Niemann-Pick type C (NPC) disease is a lysosomal storage disorder caused by…”
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Critical role for glycosphingolipids in Niemann-Pick disease type C by Zervas, Mark, Somers, Kyra L, Thrall, Mary Anna, Walkley, Steven U

“…Niemann-Pick type C (NPC) disease is a cholesterol lipidosis caused by mutations in NPC1 and NPC2 gene loci [1]. Most human cases are caused by defects in NPC1…”
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GM2 ganglioside and pyramidal neuron dendritogenesis by WALKLEY, S. U, SIEGEL, D. A, DOBRENIS, K

“…GM2 ganglioside, although scarce in normal adult brain, is the predominant ganglioside accumulating in several types of lysosomal disorders, most notably…”
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Neurons in Niemann-Pick Disease Type C Accumulate Gangliosides as Well as Unesterified Cholesterol and Undergo Dendritic and Axonal Alterations by ZERVAS, MARK, DOBRENIS, KOSTANTIN, WALKLEY, STEVEN U

“…Niemann-Pick disease type C (NPC) is a lethal neurologic storage disorder of children most often caused by a defect in the protein NPC1. To better understand…”
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Feline Niemann-Pick disease type C by BROWN, D. E, THRALL, M. A, WALKLEY, S. U, WENGER, D. A, MITCHELL, T. W, SMITH, M. O, ROYALS, K. L, MARCH, P. A, ALLISON, R. W

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Bone marrow transplantation for lysosomal diseases by Walkley, S U, Dobrenis, K

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Cellular Pathology of Lysosomal Storage Disorders by Walkley, Steven U.

“…Lysosomal storage disorders are rare, inborn errors of metabolism characterized by intralysosomal accumulation of unmetabolized compounds. The brain is…”
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Ovine Ceroid Lipofuscinosis (OCL6): Postulated Mechanism of Neurodegeneration by Jolly, R.D., Walkley, S.U.

“…It is proposed that ceroid lipofuscinosis in Southhampshire sheep (OCLSouthhampshire) be also known as OCL6 as it is syntenic with CLN6 of humans…”
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Metabolic abnormalities in feline Niemann‐Pick type C heterozygotes by Brown, D. E., Thrall, M. A., Walkley, S. U., Wurzelmann, S., Wenger, D. A., Allison, R. W., Just, C. A.

“…Summary Niemann‐Pick disease type C (NPC) is an autosomal recessive neurovisceral lysosomal storage disorder in which cholesterol lipidosis results from…”
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