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ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones.

• Authors : Wei H; Section on Developmental Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1830, USA.; Kim SJ

Subjects: Apoptosis/Apoptosis/Apoptosis/*physiology ; Endoplasmic Reticulum/Endoplasmic Reticulum/Endoplasmic Reticulum/*metabolism ; Lysosomal Storage Diseases/Lysosomal Storage Diseases/Lysosomal Storage Diseases/*metabolism

• Source: Human molecular genetics [Hum Mol Genet] 2008 Feb 15; Vol. 17 (4), pp. 469-77. Date of Electronic Publication: 2007 Nov 07.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium:

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The role of ceramide in receptor- and stress-induced apoptosis studied in acidic ceramidase-deficient Farber disease cells.

• Authors : Burek C; Department of Immunology and Cell Biology, University of Münster, Röntgenstrasse 21, D-48149 Münster, Germany.; Roth J

Subjects: Apoptosis*; Ceramides/Ceramides/Ceramides/*physiology ; Galactosylgalactosylglucosylceramidase/Galactosylgalactosylglucosylceramidase/Galactosylgalactosylglucosylceramidase/*deficiency

• Source: Oncogene [Oncogene] 2001 Oct 04; Vol. 20 (45), pp. 6493-502.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8711562 Publication Model: Print Cited Medium: Print ISSN: 0950-9232

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Involvement of caspase-3 and GD3 ganglioside in ceramide-induced apoptosis in Farber disease.

• Authors : Farina F; Department of Surgical, Anatomical and Oncological Sciences, University of Palermo, Italy.; Cappello F

Subjects: Apoptosis*; Caspases/Caspases/Caspases/*metabolism ; Ceramides/Ceramides/Ceramides/*metabolism

• Source: The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society [J Histochem Cytochem] 2000 Jan; Vol. 48 (1), pp. 57-62.Publisher: SAGE Publications Country of Publication: United States NLM ID: 9815334 Publication Model: Print Cited Medium: Print ISSN: 0022-1554

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Mitochondrial permeability transition in Ca(2+)-dependent apoptosis and necrosis.

• Authors : Rasola A; Department of Biomedical Sciences and CNR Institute of Neuroscience, University of Padova, Italy. ; Bernardi P

Subjects: Apoptosis/Apoptosis/Apoptosis/*physiology ; Calcium/Calcium/Calcium/*metabolism ; Mitochondria/Mitochondria/Mitochondria/*metabolism

• Source: Cell calcium [Cell Calcium] 2011 Sep; Vol. 50 (3), pp. 222-33. Date of Electronic Publication: 2011 May 23.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8006226 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Lysosomal storage diseases: is impaired apoptosis a pathogenic mechanism?

• Authors : Tardy C; INSERM U.466, Laboratoire de Biochimie, CHU Rangueil, Toulouse, France.; Andrieu-Abadie N

Subjects: Apoptosis*/Apoptosis*/Apoptosis*/physiology; Lysosomal Storage Diseases/Lysosomal Storage Diseases/Lysosomal Storage Diseases/*pathology; Endopeptidases/Endopeptidases/Endopeptidases/metabolism

• Source: Neurochemical research [Neurochem Res] 2004 May; Vol. 29 (5), pp. 871-80.Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 7613461 Publication Model: Print Cited Medium: Print ISSN:

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Stress-induced apoptosis is not mediated by endolysosomal ceramide.

• Authors : Ségui B; INSERM U466, Laboratoire de Biochimie, Maladies Métaboliques, Institut Louis Bugnard, C.H.U. Rangueil, 31403 Toulouse, France.; Bezombes C

Subjects: Apoptosis/Apoptosis/Apoptosis/*physiology ; Ceramides/Ceramides/Ceramides/*physiology ; Lysosomes/Lysosomes/Lysosomes/*metabolism

• Source: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2000 Jan; Vol. 14 (1), pp. 36-47.Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited

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Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts.

• Authors : Brokowska, Joanna; Gaffke, Lidia; Pierzynowska, Karolina

Subjects: FIBROBLASTS; MUCOPOLYSACCHARIDOSIS; LYSOSOMAL storage diseases

• Source: International Journal of Molecular Sciences; Sep2023, Vol. 24 Issue 18, p14119, 12p

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The butyrophilin 1a1 knockout mouse revisited: Ablation of Btn1a1 leads to concurrent cell death and renewal in the mammary epithelium during lactation.

• Authors : Jeong, Jaekwang; Kadegowda, Anil K. G.; Meyer, Thomas J.

Subjects: BUTYROPHILIN; PERILIPIN; EPITHELIAL cells

• Source: FASEB Bioadvances; Dec2021, Vol. 3 Issue 12, p971-997, 27p

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Expression of genes involved in apoptosis is dysregulated in mucopolysaccharidoses as revealed by pilot transcriptomic analyses.

• Authors : Brokowska, Joanna; Pierzynowska, Karolina; Gaffke, Lidia

Subjects: GENE expression; LYSOSOMAL storage diseases; GENES

• Source: Cell Biology International; Mar2021, Vol. 45 Issue 3, p549-557, 9p

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Research from University of Kansas Medical Center Broadens Understanding of Cystinosis (Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation).

Subjects: PROXIMAL kidney tubules; PLURIPOTENT stem cells; ACADEMIC medical centersUNIVERSITY of Kansas

• Source: Stem Cell Week; 12/22/2023, p1677-1677, 1p

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