CLN1 Disease Latest Advances

High-resolution promoter interaction analysis implicates genes involved in the activation of Type 3 Innate Lymphoid Cells in autoimmune disease risk.

Journal: bioRxiv : the preprint server for biology

Published: January 23, 2026

Prodromal pathogenesis of CLN7 Batten Disease revealed by multimodal biomarkers in macaques.

Journal: bioRxiv : the preprint server for biology

Published: January 23, 2026

DISTINCT LYSOSOMAL DYSFUNCTION PATTERNS OF PROGRANULIN DEFICIENCY IN THE CNS IMPLICATE PROGRANULIN IN CELL TYPE-SPECIFIC PROTEIN SORTING.

Journal: bioRxiv : the preprint server for biology

Published: January 09, 2026

Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration.

Journal: Human gene therapy

Published: December 29, 2025

Longitudinal Exploration of Auditory Sensory-Perceptual Processing in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): A High-Density Auditory Evoked Potential (AEP) Study.

Journal: bioRxiv : the preprint server for biology

Published: December 03, 2025

The missing piece: Solving the 50-year puzzle of BMP synthesis in neurodegeneration.

Journal: Science (New York, N.Y.)

Published: November 13, 2025

Hyperreflective Ganglion Cell Layer Band in NCL3-Associated Retinal Degeneration.

Journal: Retinal cases & brief reports

Published: November 12, 2025

Treatment of Neuronal Ceroid Lipofuscinosis Type 2 with Cerliponase Alfa: A Systematic Review and Single-Arm Meta-Analysis of Two Studies.

Journal: Journal of child neurology

Published: October 29, 2025

Canine Neuronal Ceroid Lipofuscinosis-like Disorder Associated with Sequence Variants in AP3B1 and TRAPPC9.

Journal: Genes

Published: October 21, 2025

Correction: Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses.

Journal: Journal of neurology

Published: October 15, 2025

Bioenergetic Profiling Applied to a Zebrafish Model of Neuronal Ceroid Lipofuscinosis, a Lysosomal Storage Disorder.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: October 13, 2025

Atlas of Lysosomal Aging Reveals a Molecular Clock of Storage Disorder-Associated Metabolites.

Journal: bioRxiv : the preprint server for biology

Published: October 03, 2025