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INTRODUCTION: A decline in mitochondrial function represents a key factor of a large number of inborn errors of metabolism, which lead to an extremely heterogeneous group of disorders.

OBJECTIVES: To gain insight into the biochemical consequences of mitocho...

2021-10-06 | MTBLS761 | MetaboLights
Single-cell RNA-seq of the LGE between 7 and 11 pcw was used to uncover the different cell populations of the developing human striatum and how cells transition from early progenitors to mature medium spiny neuron (MSNs) together with the discovery of their unique coding and non-coding transcription...
ORGANISM(S): Homo sapiens 
Constitutive low level DNA damage in RNASEH2 deficiency is linked to innate immune activation. Hierarchical clustering of over 16000 transcripts revealed remarkably similar profiles in patients with lupus erythematosus and patients with AGS with up-regulation of genes involved in DNA damage signalin...
ORGANISM(S): Homo sapiens 
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