Evidences of mitochondrial dysfunction in the muscle biopsy of patients with lipid storage disorders

2018 ◽  
Author(s):  
Debashree Bandopadhyay ◽  
Jessiena Ponmalar J N
Keyword(s):  
Mitochondrial Dysfunction ◽  
Muscle Biopsy ◽  
Lipid Storage ◽  
Storage Disorders

scholarly journals Lipid Storage Disorders and the Biosynthesis of Inositol Phosphatide: the Work of Roscoe Brady

2005 ◽  
Vol 280 (48) ◽  
pp. e45-e46
Author(s):  
Nicole Kresge ◽  
Robert D. Simoni ◽  
Robert L. Hill
Keyword(s):  
Lipid Storage ◽  
Storage Disorders

scholarly journals Lysosomal exocytosis and lipid storage disorders

2014 ◽  
Vol 55 (6) ◽  
pp. 995-1009 ◽  
Author(s):  
Mohammad Ali Samie ◽  
Haoxing Xu
Keyword(s):  
Lipid Storage ◽  
Storage Disorders

scholarly journals Rare Variant of Lipid Storage Disorders

Blood ◽  
1970 ◽  
Vol 35 (4) ◽  
pp. 533-538 ◽  
Author(s):  
PARVIN SAIDI ◽  
SADEGH P. AZIZI ◽  
REYHANALLAH SARLATI ◽  
NASROLAH SAYAR
Keyword(s):  
Bone Marrow ◽  
Mental Retardation ◽  
Macular Degeneration ◽  
Rare Variant ◽  
Lipid Storage ◽  
Laboratory Findings ◽  
Storage Disorders ◽  
Morphologic Appearance

Abstract A 16-year-old boy with brownish pigmentation of the skin, bilateral pingueculae, macular degeneration, hepatosplenomegaly, suggested mental retardation, and abnormal histiocytes in the bone marrow and liver is presented. The morphologic appearance of the histiocytes is unique and specific, and so far only six similar cases have been reported in the literature. The contents of these histiocytes are thought to be phospholipids and glycolipids of sphingomyelin and cerebroside variety, respectively. The significance of the clinical and laboratory findings of these cases and the possible relationship to the lipid storage disorders are discussed.

scholarly journals Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release

2012 ◽  
Vol 3 (1) ◽  
Author(s):  
Dongbiao Shen ◽  
Xiang Wang ◽  
Xinran Li ◽  
Xiaoli Zhang ◽  
Zepeng Yao ◽  
...  
Keyword(s):  
Calcium Release ◽  
Lipid Storage ◽  
Trp Channel ◽  
Lysosomal Trafficking ◽  
Storage Disorders
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