Ricardo Miramontes

iPSC Neurodegenerative Disease Initiative isogenic CAG repeat iPSC line for Huntingtons disease

The paper generates isogenic iPSC lines with CAG repeats and HTT KO for Huntington's disease study, showing differentiation potential and altered gene expression in neurons and astrocytes.

The Neurolipid Atlas: a lipidomics resource for neurodegenerative diseases uncovers cholesterol as a regulator of astrocyte reactivity impaired by ApoE4

The paper introduces the Neurolipid Atlas, a lipidomics resource for neurodegenerative diseases, revealing that ApoE4 impairs astrocyte reactivity by promoting cholesterol ester accumulation.

Intersecting impact of CAG repeat and Huntingtin knockout in stem cell-derived cortical neurons

This study compares the effects of HTT knockout and CAG repeat expansion in cortical neurons, identifying shared and distinct biological pathways involved in HD.

Aberrant splicing in Huntington's disease via disrupted TDP-43 activity accompanied by altered m6A RNA modification.

This study identifies TDP-43 dysfunction and reduced m6A modification as mechanisms causing aberrant splicing in Huntington's disease using mouse and human brain data.

CryoET Reveals Organelle Phenotypes in Huntington Disease Patient iPSC-Derived and Mouse Primary Neurons

This study uses cryoET and proteomics to identify mitochondrial and organelle abnormalities in HD models, showing potential for early diagnosis and therapy development.

Integrated transcriptome analysis of Huntingtons disease iPSC-derived and mouse astrocytes implicates dysregulated synaptogenesis, actin, and astrocyte maturation

This study compares HD astrocytes from human iPSCs and mouse models, identifying dysregulated synaptogenesis, actin signaling, and maturation, with unique human findings and potential therapeutic targets.

Single nuclei RNAseq analysis of HD mouse models and human brain reveals impaired oligodendrocyte maturation and potential role for thiamine metabolism

This study uses snRNAseq to analyze HD mouse models and human brain tissue, identifying impaired oligodendrocyte maturation and a potential role for thiamine metabolism in disease pathology.