A lethal defect of mitochondrial and peroxisomal fission.

By H. Waterham, J. Koster, C. V. van Roermund, P. Mooyer, R. Wanders, J. Leonard. New England Journal of Medicine, 2007

764 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/a8b642bca1b058e8df6fb1b1766badf24051eace

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In Molecular Biology

Citations in the corpus

Mitochondrial fragmentation in neurodegeneration (2008, background): “A recent case study reported a dominant-negative mutation in the part of the human DRP1 gene that encodes the helical domai”
Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases (2009, background): “Although no inherited diseases are known to result from mutation of these genes, one case of neonatal lethality has been attributed to a defect in Drp1 (25).”
Metabolic regulation of mitochondrial dynamics (2016, background): “In humans, two clinical studies have linked Drp1 mutation to microcephaly, neonatal lethality (Waterham et al., 2007), and refractory epilepsy (Vanstone et al.”
Mitochondria and Mitophagy: The Yin and Yang of Cell Death Control (2012, background): “Defects in DRP1 function also are associated with early infant mortality and cardiomyopathy.(134,135) Knockdown of fusion proteins mitochondrial assembly regulatory factor (MARF) or OPA1 leads to the development of cardiomyopathy in Drosophila.”
Mff is an essential factor for mitochondrial recruitment of Drp1 during mitochondrial fission in mammalian cells (2010, background): “Mff RNAi, but not hFis1 RNAi and hFis1 CKO, stimulates peroxisomal tubular extension Because mammalian peroxisomes and mitochondria have been shown to share components of the fission machinery, namely Drp1, hFis1, and Mff (Koch et al., 2005; Schrader, 2006; Waterham et al., 2007; Gandre-Babbe and va”
Functions and dysfunctions of mitochondrial dynamics (2007, background): “Fibroblasts from this patient showed elongated mitochondria and peroxisome”
The dynamin-related GTPase Drp1 is required for embryonic and brain development in mice (2009, background): “…for cerebellar development Mitochondrial division is implicated in many neurodegenerative diseases (Knott and Bossy-Wetzel, 2008), and heterozygous dominant-negative somatic mutation of Drp1 leads to postnatal death with developmental defects in the brain and retina (Waterham et al., 2007).”
Mitochondrial Dynamics in the Regulation of Nutrient Utilization and Energy Expenditure (2013, background): “…cycle, extended exposure to excess nutrient environment is expected to impact quality control, a condition that will contribute to reduced longevity. lethality with brain developmental defects and severe neurodegeneration (Ishihara et al., 2009; Wakabayashi et al., 2009; Waterham et al., 2007).”
Mitochondrial fusion and fission in cell life and death (2010, background): “The girl died 37 days after birth and exhibited, among other symptoms, severe neurological defects, including microencephaly, abnormal brain development and optic atroph”