Novel insights into the pathogenesis of DYT1 dystonia from induced patient-derived neurons

Article Medicine, Research & Experimental

Neuron type-specific increase in lamin B1 contributes to nuclear dysfunction in Huntington's disease

Rafael Alcala-Vida et al.

Summary: The study indicates that increased lamin B1 levels contribute to the pathophysiology of Huntington's disease, providing a novel target for intervention. The normalization of lamin B1 levels in the hippocampus could restore nuclear homeostasis and prevent motor and cognitive dysfunction in a mouse model of HD.

EMBO MOLECULAR MEDICINE (2021)

Add to Collection

Article Neurosciences

Disease Modeling with Human Neurons Reveals LMNB1 Dysregulation Underlying DYT1 Dystonia

Baojin Ding et al.

Summary: DYT1 dystonia is a hereditary neurologic movement disorder caused by a mutation in the TOR1A gene encoding an ATPase. Modeling the disease using patient-specific neurons revealed that dysregulation of the nuclear lamina protein LMNB1 could be a major molecular mechanism underlying DYT1 pathology.

JOURNAL OF NEUROSCIENCE (2021)

Add to Collection

Review Clinical Neurology

Genetic Dystonias: Update on Classification and New Genetic Discoveries

Ignacio Juan Keller Sarmiento et al.

Summary: With the advancements in next-generation sequencing, more genes associated with dystonia have been discovered. As our understanding of the genetic basis of monogenic dystonias has grown, the clinical boundaries are becoming increasingly blurred.

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2021)

Add to Collection

Article Cell Biology