GANGLIOSIDE STORAGE DISEASES
\ɡˈaŋɡlɪˌɒsa͡ɪd stˈɔːɹɪd͡ʒ dɪzˈiːzɪz], \ɡˈaŋɡlɪˌɒsaɪd stˈɔːɹɪdʒ dɪzˈiːzɪz], \ɡ_ˈa_ŋ_ɡ_l_ɪ__ˌɒ_s_aɪ_d s_t_ˈɔː_ɹ_ɪ_dʒ d_ɪ_z_ˈiː_z_ɪ_z]\
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A group of often fatal inherited diseases marked by the accumulation of GANGLIOSIDES in LYSOSOMES secondary to enzymatic deficiency states. Gangliosidoses include TAY- SACHS DISEASE; GANGLIOSIDOSIS GM1; GANGLIOSIDOSES GM2; and SANDHOFF DISEASE; which share the infantile or childhood onset of CENTRAL NERVOUS SYSTEM deterioration. (Menkes, Textbook of Child Neurology, 5th ed, pp89-97)
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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.