Search Results - (Author, Cooperation:C. Gellera)
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1Latest Papers from Table of Contents or Articles in PressC. H. Wu ; C. Fallini ; N. Ticozzi ; P. J. Keagle ; P. C. Sapp ; K. Piotrowska ; P. Lowe ; M. Koppers ; D. McKenna-Yasek ; D. M. Baron ; J. E. Kost ; P. Gonzalez-Perez ; A. D. Fox ; J. Adams ; F. Taroni ; C. Tiloca ; A. L. Leclerc ; S. C. Chafe ; D. Mangroo ; M. J. Moore ; J. A. Zitzewitz ; Z. S. Xu ; L. H. van den Berg ; J. D. Glass ; G. Siciliano ; E. T. Cirulli ; D. B. Goldstein ; F. Salachas ; V. Meininger ; W. Rossoll ; A. Ratti ; C. Gellera ; D. A. Bosco ; G. J. Bassell ; V. Silani ; V. E. Drory ; R. H. Brown, Jr. ; J. E. Landers
Nature Publishing Group (NPG)
Published 2012Staff ViewPublication Date: 2012-07-18Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Actins/metabolism ; Amino Acid Sequence ; Amyotrophic Lateral Sclerosis/diagnosis/*genetics/metabolism/*pathology ; Animals ; Axons/metabolism/pathology ; Cells, Cultured ; European Continental Ancestry Group/genetics ; Exome/genetics ; Female ; Genetic Predisposition to Disease/*genetics ; Growth Cones/metabolism ; High-Throughput Nucleotide Sequencing ; Humans ; Jews/genetics ; Male ; Mice ; Models, Molecular ; Molecular Sequence Data ; Motor Neurons/cytology/metabolism ; Mutant Proteins/genetics/*metabolism ; Mutation/*genetics ; Pedigree ; Profilins/*genetics/*metabolism ; Protein Conformation ; UbiquitinationPublished by: -
2Articles: DFG German National LicensesGellera, C. ; Verderio, E. ; Floridia, G. ; Finocchiaro, G. ; Montermini, L. ; Cavadini, P. ; Zuffardi, O. ; Taroni, F.
Amsterdam : ElsevierStaff ViewISSN: 0888-7543Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: BiologyMedicineType of Medium: Electronic ResourceURL: -
3Articles: DFG German National LicensesStaff View
ISSN: 0167-4838Keywords: (Human skeletal muscle) ; (Muscle mitrochondrion) ; ATP affinity chromatography ; Malic enzyme ; NADP^+ ; NAD^+Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: BiologyChemistry and PharmacologyMedicineType of Medium: Electronic ResourceURL: -
4Articles: DFG German National LicensesPareyson, D. ; Castellotti, B. ; Botti, S. ; Defanti, C. A. ; Gellera, C. ; Taroni, F. ; Sghirlanzoni, A.
Springer
Published 1995Staff ViewISSN: 1590-3478Keywords: Kennedy's disease ; Spinal and bulbar muscular atrophy ; Trinucleotide repeats ; Motoneuron disease ; Androgen receptorSource: Springer Online Journal Archives 1860-2000Topics: MedicineDescription / Table of Contents: Sommario La sindrome di Kennedy, o atrofia muscolare spino-bulbare (SBMA), è una rara malattia del motoneurone ad ereditarietà legata al cromosoma X, caratterizzata dalla presenza di segni di insensibilità agli androgeni. È associata ad una espansione di una sequenza ripetuta del trinucleotide CAG nel gene del recettore per gli androgeni (AR). Vengono riportati i dati clinici e molecolari di due famiglie italiane con sindrome di Kennedy. L'espansione della sequenza ripetuta (CAG)n è stata dimostrata in 4 maschi affetti ed 7 femmine portatrici.Notes: Abstract Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-linked motoneuron disorder with variable signs of androgen insensitivity. It is associated with the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene. We here report our clinical and molecular findings in two Italian families with Kennedy's disease. The increased size of the CAG repeat was demonstrated in four affected males and seven carrier females.Type of Medium: Electronic ResourceURL: -
5Articles: DFG German National LicensesUziel, G. ; Cornelio, F. ; Gellera, C. ; Perego, G. ; Rimoldi, M. ; Donato, S.
Springer
Published 1986Staff ViewISSN: 1590-3478Keywords: Olivopontocerebellar atrophy ; adenylate deaminase ; glutamate dehydrogenaseSource: Springer Online Journal Archives 1860-2000Topics: MedicineDescription / Table of Contents: Sommario In due sorelle gemelle biovulari affette da una forma di atrofia olivo-ponto-cerebellare e normale attività della glutammatodeidrogenasi è stato evidenziato un marcato deficit dell'attività dell'adenilato deaminasi nel muscolo scheletrico. Non vi era inoltre aumento dell'ammoniemia dopo test da sforzo ischemico. L'associazione tra atrofia olivo-ponto-cerebellare e difetto di adenilato deaminasi in queste sorelle è probabilmente casuale.Notes: Abstract Two adult non-identical twins with autosomal recessive olivopontocerebellar degeneration (OPCA) had markedly deficient adenylate deaminase in skeletal muscle homogenates. Ischemic exercise failed to increase the blood ammonia, while lactate increased normally. Glutamate dehydrogenase and NADP-dependent malic enzyme activities in muscle mitochondria of both patients were normal. The significance of adenylate deaminase deficiency in these twins with OPCA is discussed.Type of Medium: Electronic ResourceURL: