Results 71 to 80 of about 3,656,183 (130)

The heart in inherited metabolic disorders: lysosomal and glycogen storage diseases

, 2018
Lysosomal storage diseases (LSDs) represent a large and heterogeneous group of rare inherited disorders caused by a defective function of one of the lysosomal acid hydrolases, their activator proteins, or proteins necessary for intracellular trafficking.
Ales Linhart
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Common and uncommon pathogenic cascades in lysosomal storage diseases.

, 2016
Lysosomal storage diseases (LSDs), of which about 50 are known, are caused by the defective activity of lysosomal proteins, resulting in accumulation of unmetabolized substrates. As a result, a variety of pathogenic cascades are activated such as altered

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Lysosomal diseases: Overview on current diagnosis and treatment

Genetics and Molecular Biology, 2019
Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function.
Fabiano de Oliveira Poswar, Filippo Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Roberto Giugliani   +8 more
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Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Ward, N.J., Buckley, S.M.K., Ward, NJ, Chan, J.K.Y., Waddington, S.N., Rahim, A.A., Waddington, SN, Rahim, AA, Chan, JK, Mckay, T.R., Howe, S.J., Howe, SJ, McKay, TR, Natalie J. Ward, Ahad A. Rahim, Steven J. Howe, Jerry K.Y.Chan, Suzanne M.K. Buckley, Simon N. Waddington, Tristan R. McKay   +20 more
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Haematopoietic development and immunological function in the absence of cathepsin D [PDF]

, 2007
Background: Cathepsin D is a well-characterized aspartic protease expressed ubiquitously in lysosomes. Cathepsin D deficiency is associated with a spectrum of pathologies leading ultimately to death.
Calogero Tulone, Chain Benjamin M, Grosvenor Nicholas, Saftig, P, Marco Novelli, Uchiyama Yasuo, Novelli Marco, Saftig Paul, Chain, BM, Benjamin M Chain, Paul Saftig, Tulone, C, Nicholas Grosvenor, Yasuo Uchiyama, Uchiyama, Y, Tulone Calogero, Novelli, M, Grosvenor, N   +17 more
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Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases.

, 2011
Disrupted cellular Ca(2+) signaling is believed to play a role in a number of human diseases including lysosomal storage diseases (LSD). LSDs are a group of ∼50 diseases caused predominantly by mutations in lysosomal proteins that result in accumulation ...
Platt, Frances M., Emyr Lloyd-Evans, Frances M. Platt, Lloyd-Evans, Emyr   +3 more
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Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis.

, 2002
Paediatric neurodegenerative diseases are frequently caused by inborn errors in glycosphingolipid (GSL) catabolism and are collectively termed the glycosphingolipidoses.
M. Jeyakumar, R. A. Dwek, F. M. Platt, T. D. Butters   +3 more
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Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.

, 2006
Contains fulltext : 50653.pdf (Publisher’s version ) (Open Access)BACKGROUND: At least 20 inborn errors of metabolism may cause hydrops fetalis. Most of these are lysosomal storage diseases. The study proposes a diagnostic flowchart for
Pim M.W. Janssens, Emilia K. Bijlsma, Smits, Arie P. T., Janssens, P.M.W., van den Berg, Paul P., de Groot, Akosua N. J. A., Angelique J.A. Kooper, Catharina J.M.G. van den Berg, Berg, P.P. van den, Bijlsma, E.K., Arie P.T. Smits, Wevers, R.A., Kooper, Angelique J. A., Akosua N.J.A. de Groot, Smits, A.P.T., Janssens, Pim M. W., Maria L.F. Liebrand-van Sambeek, Kooper, A.J.A., van den Berg, Catharina J. M. G., Tan-Sindhunata, G.B., Ron A. Wevers, Gita B. Tan-Sindhunata, Berg, C.J.M.G. van den, Liebrand-van Sambeek, M.L.F., Bijlsma, Emilia K., Groot, A.N.J.A. de, Wevers, Ron A., Sambeek, Maria L. F. Liebrand-van, Paul P. van den Berg, Tan-Sindhunata, Gita B.   +29 more
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Effect of disease progression on CSF-directed AAV gene therapy in a large brain animal model of lysosomal storage disease

Molecular Therapy: Methods & Clinical Development
The lysosomal storage disease alpha-mannosidosis (AMD) is caused by a genetic deficiency of lysosomal alpha-mannosidase, leading to the widespread presence of storage lesions in the brain and other tissues.
Jacqueline E. Hunter, Caitlyn M. Molony, Wojciech K. Panek, Charles H. Vite, Sanjeev Chawla, Harish Poptani, John H. Wolfe   +6 more
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The emerging role and clinicopathological significance of MFSD12 in cancer and lysosomal storage diseases [PDF]

MFSD12 protein has recently risen as a key factor in malignancy and plays a potential role in a variety of complex oncogenic signaling cascades. Current studies suggest that MFSD12 has a positive complex role in the growth and progression of tumors such ...
Liqiong Ding
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