The tumor suppressor wild-type p53 can induce apoptosis. M1-t-p53 myeloid leukemic cells have a temperature-sensitive p53 protein that changes its conformation to wild-type p53 after transfer from 37 degrees C to 32 degrees C. We have now found that these cells showed an early lysosomal rupture after transfer to 32 degrees C. Mitochondrial damage, including decreased membrane potential and rele...

Transition metal toxicity is an important factor in the pathogenesis of numerous human disorders, including neurodegenerative diseases. Lysosomes have emerged as important factors in transition metal toxicity because they handle transition metals via endocytosis, autophagy, absorption from the cytoplasm and exocytosis. Transcription factor EB (TFEB) regulates lysosomal biogenesis and the expres...

The human sulfatase family has 17 members, 13 of which have been characterized biochemically. These enzymes specifically hydrolyze sulfate esters in glycosaminoglycans, sulfolipids, or steroid sulfates, thereby playing key roles in cellular degradation, cell signaling, and hormone regulation. The loss of sulfatase activity has been linked to severe pathophysiological conditions such as lysosoma...

BACKGROUND Clinical diagnosis of parkinsonian syndromes like Parkinson's disease (PD), corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) is hampered by overlapping symptomatology and lack of diagnostic biomarkers, and definitive diagnosis is only possible post-mortem. OBJECTIVE Since impaired protein degradation plays an important role in many neurodegenerative disorder...

how to cite this article: nilipour y. lysosomal myopathies. iran j child neurol autumn 2012; 6:4 (suppl. 1):11. pls see pdf.

Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a 12-year-old boy with short stature, general weakness, and photophobia. The diagnosis was confirmed based on ophthalmic findings and biochemical analyses (serum leukocyte cystine measurement). Major...

torage histiocyte disorders are inborn errors of metabolism caused by enzyme deficiencies. Gaucher’s disease is the most prevalent lysosomal storage disorder, but cells indistinguishable by light microscope examination from typical Gaucher cells (pseudoGaucher cells) have been observed in many hematologic and non hematologic disorders. We report a case of centrocytic nodular non Hodgkin’s lymph...

Sangamo scientists or collaborators will deliver ten oral and nine poster presentations during the conference. These presentations will detail data from therapeutic and research programs for lysosomal storage disorders and other monogenic diseases, cancer immunotherapy, and central nervous system disorders, as well as advancements in genome editing technology and novel delivery modalities. Sang...

Alterations in glycosphingolipid (GSL) production results in lysosomal storage disorders associated with neurodegenerative changes. In Gaucher's disease, the patients also develop osteoporosis that is ameliorated upon treatment for the underlying defect in GSL metabolism. The role of GSLs in osteoclast and osteoblast formation is discussed here as well as the potential therapeutic uses of alrea...

how to cite this article: houshmand m, tonekaboni sh, karimzadeh p, aryani o, ashrafimr, salehpour sh, badv sh, shakiba m, alaee mr, farshid sh. lysosomal storage disease iniran. (report of molecular study). iran j child neurol autumn 2012; 6:4 (suppl. 1): 22.   pls see pdf.