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- ArticleMiranda AF, Nette EG, Hartlage PL, DiMauro S.Neurology. 1979 Nov;29(11):1538-41.Phosphorylase isoenzymes were studied by acrylamide-slab electrophoresis in normal tissues and in the heart of a child with a fatal infantile form of myophosphorylase deficiency. Of the three bands present in normal human heart, two were missing in the patient's heart: the slow "muscle" isoenzyme and the intermediate band. Only the fast "cardiac" isoenzyme remained. When extracts of normal skeletal muscle and the patient's heart were mixed in appropriate conditions, the intermediate band reappeared in the electropherogram. Phosphorylase activity in extracts of the patient's heart was not inhibited by antibodies against purified enzyme from mature human muscle, whereas normal human heart phosphorylase was inhibited by approximately 50%. These results suggest that the intermediate band of human heart phosphorylase is a hybrid of skeletal and cardiac muscle isoenzymes. Retained activity of the cardiac isoenzyme may explain why patients genetically lacking skeletal muscle phosphorylase do not have clinical heart disease.
- Bookedited by Shamim I. Ahmad.Contents:
Triple A syndrome / Vijaya Sarathi and Nalini S. Shah
Amyotrophic lateral sclerosis / J. Jefferson ... [et al.]
Early onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1 / Masayoshi Tada ... [et al.]
Clinical features and pathogenesis of Alzheimer's disease : involvement of mitochondria and mitochondrial DNA / Michelangelo Mancuso ... [et al.]
Huntington's disease / Emmanuel Roze ... [et al.]
Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA) / Masahisa Katsuno ... [et al.]
Spinocerebellar ataxia with axonal neuropathy / Cheryl Walton ... [et al.]
Tuberous sclerosis complex and DNA repair / Samy L. Habib
Hereditary photodermatoses / Dennis H. Oh and Graciela Spivak
Trichothiodystrophy : photosensitive, TTDP, TTD,Tay syndrome / W. Clark Lambert, Claude E. Gagna, and Muriel W. Lambert
Cornelia De Lange syndrome / Jinglan Liu and Gareth Baynam
Rectal cancer and importance of chemoradiation in the treatment / Sergio Huerta
Familial cutaneous melanoma / Johan Hansson
Primary immunodeficiency syndromes / Mary A. Slatter and Andrew R. Gennery
Inherited defects of immunoglobulin class switch recombination / Sven Kracker, Pauline Gardøs, and Anne Durandy
Ligase IV syndrome / Dimitry A. Chistiakov
Muir-Torre syndrome / Pedro Mercader
Wilms' tumor / Carlos H. Martinez, Sumit Dave, and Jonathan Izawa
Cerebro-oculo-facio-skeletal syndrome / Hiroshi Suzumura and Osamu Arisaka
Dyskeratosis congenita / Vineeta Gupta and Akash Kumar
Retinoblastoma / Dietmar Lohmann
Von Hippel Lindau syndrome / Jenny J. Kim, Brian I. Rini, and Donna E. Hansel.Digital Access Springer 2010Access via Advances in experimental medicine and biology ; 2010; 685LocationVersionCall NumberItems