Search Results - Debbie Ang
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Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60 by Jens Jacob Hansen, Alexandra Dürr, Isabelle Cournu‐Rebeix, Costa Georgopoulos, Debbie Ang, Marit N. Nielsen, Claire‐Sophie Davoine, Alexis Brice, Bertrand Fontaine, Niels Gregersen, Peter Bross
Published 2002Artigo -
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The Hsp60-(p.V98I) Mutation Associated with Hereditary Spastic Paraplegia SPG13 Compromises Chaperonin Function Both in Vitro and in Vivo by Peter Bross, Søren Naundrup, Jakob Hansen, Marit N. Nielsen, Jane Christensen, Mogens Kruhøffer, Johan Palmfeldt, Thomas J. Corydon, Niels Gregersen, Debbie Ang, Costa Georgopoulos, Kåre Lehmann Nielsen
Published 2008Artigo -
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Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy by Daniella Magen, Costa Georgopoulos, Peter Bross, Debbie Ang, Yardena Segev, Dorit Goldsher, Alexandra Nemirovski, Eli Shahar, Sarit Ravid, Anthony Luder, Bayan Heno, Ruth Gershoni‐Baruch, Karl Skorecki, Hanna Mandel
Published 2008Artigo
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Biology
Gene
Genetics
Cell biology
Escherichia coli
Heat shock protein
Hsp70
Medicine
Molecular biology
Mutant
Pathology
Biochemistry
Chaperone (clinical)
Chaperonin
HSP60
Mutation
Phenotype
RNA
Ribosome
Ataxia
Complementation
Disease
GroEL
Hereditary spastic paraplegia
Inner membrane
Leukodystrophy
Membrane
Membrane protein
Missense mutation
Neurodegeneration