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List of works by Uwe Richter

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy

scientific article published on 12 April 2017

A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

scientific article published on 01 February 2019

Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions

scientific article published on 12 September 2019

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

scientific article published on 30 October 2018

Mitochondrial Nascent Chain Quality Control Determines Organelle Form and Function

scientific article published on 23 September 2019

Mitochondrial stress response triggered by defects in protein synthesis quality control

scientific article published on 25 January 2019

RNA modification landscape of the human mitochondrial tRNA regulates protein synthesis

scientific article published in Nature Communications

Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome

scientific article published on 9 June 2016

Why translation counts for mitochondria - retrograde signalling links mitochondrial protein synthesis to mitochondrial biogenesis and cell proliferation

scientific article published on 6 September 2013

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