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Printable Handouts
Navigable Slide Index
- Introduction
- Lysosomes
- Lysosomes are multifunctional
- Lysosome related organelles: functions
- Complexity & functions of lysosomal proteins
- Lysosomal dysfunction causes disease
- Lysosomal storage diseases
- Sphingolipid lysosomal storage diseases
- Disease variants
- Lysosomal diseases: multimorbidity disorders
- Pathogenic cascade (1)
- Pathogenic cascade (2)
- Specific therapies approved for some diseases
- Molecular mechanisms of LSDs
- Therapeutic approaches for LSDs
- Lysosomal enzymes
- ERTs: approved or in advanced clinical trials
- Approved small molecules: SRT & EET
- Multiple gene therapy trials: enzyme deficiencies
- Cellular organelles targeted by LSD therapies
- Lysosomal & neurodegenerative diseases
- Parkinsonism and Gaucher disease
- LSD causing mutant genes in sporadic PD
- Summary
- Acknowledgments
Topics Covered
- Lysosomes are multifunctional
- Lysosome related organelles
- Complexity & functions of lysosomal proteins
- Lysosomal storage diseases
- Sphingolipid lysosomal storage diseases as an example
- Lysosomal diseases: multimorbidity disorders
- Pathogenic cascade beyond the Lysosomal System
- Specific therapies approved for some diseases
- Molecular mechanisms and therapeutic approaches of LSDs
- Lysosomal enzymes
- ERTs: approved or in advanced clinical trials
- Approved small molecules: SRT & EET
- Multiple gene therapy trials: enzyme deficiencies
- Cellular organelles targeted by LSD therapies
- Lysosomal & neurodegenerative diseases
Links
Series:
Categories:
Talk Citation
Platt, F. (2019, March 31). Lysosomal storage diseases [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 3, 2024, from https://doi.org/10.69645/LTBV1723.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Fran Platt has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Other Talks in the Series: Autophagy and Lysosomal Storage Diseases
Transcript
Please wait while the transcript is being prepared...
0:00
Hello, my name is Fran Platt.
I'm a professor of Biochemistry and Pharmacology at the University of Oxford in the UK.
My lab is interested in lysosomal storage diseases.
This is going to be an introductory talk on
the subject that's going to range from the background of these disorders,
progress towards therapy, and also,
their very interesting links to more common diseases.
0:25
Lysosomal storage diseases
involve defects in a very specialized part of the cell called the lysosome.
The lysosome is the acidic organelle of the cell,
and it's long been appreciated to be
the main site of macromolecule breakdown or catabolism,
and also those macromolecules,
when they are broken down,
the metabolites that are generated can be recycled into
other parts of the cell to feed into other metabolic pathways.
So, we've known for many years that the lysosome
has this key recycling and degradative function.
But, what's really fascinating is that over the years,
we've begun to appreciate that there's much more complexity to what
the lysosome does than just this really quite mundane housekeeping role.
In fact, it turns out that this is the part of the cell that actually senses nutrients,
and also it has emerged to be a calcium signaling center that
actually, cross-talks with the ER and other calcium signaling centers of the cell.
So, this means that over the last 10 years in particular,
there's been a renaissance of interest in the lysosome,
and much of the insight into how the lysosome works actually came from studying
rare inborn errors of metabolism at which
the lysosomal storage diseases are the main group of disorders.