A lysosome is a single membrane-bound organelle found in many animal cells. They are spherical vesicles that contain hydrolytic enzymes that digest many kinds of biomolecules. A lysosome has a specific composition, of both its membrane proteins and its lumenal proteins. The lumen's pH (~4.5–5.0) is optimal for the enzymes involved in hydrolysis, analogous to the activity of the stomach. Besides degradation of polymers, the lysosome is involved in cell processes of secretion, plasma membrane repair, apoptosis, cell signaling, and energy metabolism.
Huntington Faxon Willard is an American geneticist. In 2014, he was named to head the Marine Biological Laboratory, and is a professor in human genetics at the University of Chicago. He stepped down from leading the lab in 2017 to return to research. Willard was elected to the National Academy of Medicine in 2016. Earlier, beginning in 2003 he was the Nanaline H. Duke Professor of Genome Sciences, the first director of the Institute for Genome Sciences and Policy, and Vice Chancellor for Genome Sciences at Duke University Medical Center in Durham, North Carolina.
Enzyme replacement therapy (ERT) is a medical treatment which replaces an enzyme that is deficient or absent in the body. Usually, this is done by giving the patient an intravenous (IV) infusion of a solution containing the enzyme.
β-Glucocerebrosidase is an enzyme with glucosylceramidase activity that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes. It is localized in the lysosome, where it remains associated with the lysosomal membrane. β-Glucocerebrosidase is 497 amino acids in length and has a molecular mass of 59,700 Da.
Steroid sulfatase (STS), or steryl-sulfatase, formerly known as arylsulfatase C, is a sulfatase enzyme involved in the metabolism of steroids. It is encoded by the STS gene.
Lysosomal lipase is a form of lipase which functions intracellularly, in the lysosomes.
Lysosome-associated membrane protein 2 (LAMP2), also known as CD107b and Mac-3, is a human gene. Its protein, LAMP2, is one of the lysosome-associated membrane glycoproteins.
Tripeptidyl-peptidase 1, also known as Lysosomal pepstatin-insensitive protease, is an enzyme that in humans is encoded by the TPP1 gene, also known as CLN2. TPP1 should not be confused with the TPP1 shelterin protein which protects telomeres and is encoded by the ACD gene. Mutations in the TPP1 gene leads to late-infantile neuronal ceroid lipofuscinosis.
CTNS may also refer to the Center for Theology and the Natural Sciences.
Lysosomal integral membrane protein 2 (LIMP-2) is a protein that in humans is encoded by the SCARB2 gene. LIMP-2 is expressed in brain, heart, liver, lung and kidney, mainly in the membrane of lysosome organelles; however, in cardiac muscle, LIMP-2 is also expressed at intercalated discs. LIMP-2 in a membrane protein in lysosomes that functions to regulate lysosomal/endosomal transport. Mutations in LIMP-2 have been shown to cause Gaucher disease, myoclonic epilepsy, and action myoclonus–renal failure syndrome. Abnormal levels of LIMP-2 have also been found in patients with hypertrophic cardiomyopathy.
Max-like protein X is a protein that in humans is encoded by the MLX gene.
Transcription factor EB is a protein that in humans is encoded by the TFEB gene.
MNT is a Max-binding protein that is encoded by the MNT gene
Philippe J. Sansonetti is a French microbiologist, professor at the Pasteur Institute and the Collège de France in Paris. He is the director of the Inserm Unit 786 and of the Institut Pasteur laboratory Pathogénie Microbienne Moléculaire.
Edith Heard is a British-French researcher in epigenetics who has been serving as the Director General of the European Molecular Biology Laboratory (EMBL) since January 2019. She is also Professor at the Collège de France, holding the Chair of Epigenetics and Cellular Memory. In 2025 she will become CEO of the Crick Institute in London, U.K.
Dirk Bootsma was a Dutch geneticist. He was a professor at Erasmus University Rotterdam from 1969 and 2002. He and his research group discovered the cause of chronic myelogenous leukemia and furthered the understanding of the nucleotide excision repair.
Jean-Louis Mandel, born in Strasbourg on February 12, 1946, is a French medical doctor and geneticist, and heads a research team at the Institute of Genetics and Molecular and Cellular Biology (IGBMC). He has been in charge of the genetic diagnosis laboratory at the University Hospitals of Strasbourg since 1992, as well as a professor at the Collège de France since 2003.
Giuseppe Merla is an Italian scientist who is a Full Professor of Molecular Biology at University of Naples Federico II, Naples, Italy and medical geneticist at Casa Sollievo della Sofferenza in San Giovanni Rotondo, Italy. He is the Managing Director of Fondazione Telethon-Genomic and Genetics Disorders Biobank, a member of EuroBioBank at the Casa Sollievo della Sofferenza Hospital. Merla and his team led the discovery of a new rare genetic syndrome intellectual development disorder with cardiac arrhythmia and the gene responsible for it. Merla is also known for his extensive research on Kabuki Syndrome. He has been declared as the Ambassador of Kabuki syndrome and received the 2019 Ambassador Day award at the Royal Villa of Monza.
Luigi Naldini is an Italian gene therapist, professor of cell and tissue biology and of gene and cell therapy at Vita-Salute San Raffaele University, and the director of San Raffaele Telethon Institute for Gene Therapy in Milan, Italy. Often considered as "the father of the lentivirus gene therapy", he is globally known as the pioneer of "the development and applications of lentiviral vectors for gene transfer" that allowed the gene therapy treatment of several genetic diseases. He is also a scientific co-founder of three biotech start-up companies, Genenta in Milan and New York, Chroma Medicine in Milan and Boston, Genespire in Milan. He is also the former president of European Society of Gene and Cell Therapy (ESGCT) and an elected member of European Molecular Biology Organization (EMBO). In 2019, he was awarded Louis-Jeantet Prize for Medicine "for taking gene therapy from the bench to the bedside".
