Current clinical applications of in vivo gene therapy with AAVs

JR Mendell, SA Al-Zaidy, LR Rodino-Klapac… - Molecular Therapy, 2021 - cell.com
Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases
affect over 30 million Americans. For more than 30 years, hundreds of researchers have …

Lysosomes as dynamic regulators of cell and organismal homeostasis

A Ballabio, JS Bonifacino - Nature reviews Molecular cell biology, 2020 - nature.com
Exciting new discoveries have transformed the view of the lysosome from a static organelle
dedicated to the disposal and recycling of cellular waste to a highly dynamic structure that …

Past, present, and future perspectives of transcription factor EB (TFEB): mechanisms of regulation and association with disease

A Tan, R Prasad, C Lee, E Jho - Cell Death & Differentiation, 2022 - nature.com
Transcription factor EB (TFEB), a member of the MiT/TFE family of basic helix-loop-helix
leucine zipper transcription factors, is an established central regulator of the …

Lysosomes as a therapeutic target

SR Bonam, F Wang, S Muller - Nature reviews Drug discovery, 2019 - nature.com
Lysosomes are membrane-bound organelles with roles in processes involved in degrading
and recycling cellular waste, cellular signalling and energy metabolism. Defects in genes …

Lysosomal storage diseases

FM Platt, A d'Azzo, BL Davidson, EF Neufeld… - Nature reviews Disease …, 2018 - nature.com
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized
by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These …

Principles and functions of metabolic compartmentalization

L Bar-Peled, N Kory - Nature metabolism, 2022 - nature.com
Metabolism has historically been studied at the levels of whole cells, whole tissues and
whole organisms. As a result, our understanding of how compartmentalization—the spatial …

Mechanisms and functions of lysosome positioning

J Pu, CM Guardia, T Keren-Kaplan… - Journal of cell …, 2016 - journals.biologists.com
Lysosomes have been classically considered terminal degradative organelles, but in recent
years they have been found to participate in many other cellular processes, including killing …

The rapidly evolving view of lysosomal storage diseases

G Parenti, DL Medina, A Ballabio - EMBO molecular medicine, 2021 - embopress.org
Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of
several components of lysosomal function. Most commonly affected are lysosomal …

Emptying the stores: lysosomal diseases and therapeutic strategies

FM Platt - Nature reviews Drug discovery, 2018 - nature.com
Lysosomal storage disorders (LSDs)—designated as' orphan'diseases—are inborn errors of
metabolism caused by defects in genes that encode proteins involved in various aspects of …

TFEB at a glance

G Napolitano, A Ballabio - Journal of cell science, 2016 - journals.biologists.com
The transcription factor EB (TFEB) plays a pivotal role in the regulation of basic cellular
processes, such as lysosomal biogenesis and autophagy. The subcellular localization and …