M
Margherita Protasoni
Researcher at University of Cambridge
Publications - 9
Citations - 172
Margherita Protasoni is an academic researcher from University of Cambridge. The author has contributed to research in topics: Mitochondrion & Medicine. The author has an hindex of 3, co-authored 4 publications receiving 77 citations.
Papers
More filters
Journal ArticleDOI
Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV.
Margherita Protasoni,Rafael Pérez-Pérez,Teresa Lobo-Jarne,Michael E. Harbour,Shujing Ding,Ana Peñas,Francisca Diaz,Carlos T. Moraes,Ian M. Fearnley,Massimo Zeviani,Massimo Zeviani,Cristina Ugalde,Erika Fernandez-Vizarra +12 more
TL;DR: It is proposed that complex III is central for MRC maturation and SC formation, and the notion that SC biogenesis requires the pre‐formation of fully assembled individual complexes is challenged.
Journal ArticleDOI
Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions.
TL;DR: Mitochondria are ubiquitous intracellular organelles found in almost all eukaryotes and involved in various aspects of cellular life, with a primary role in energy production as discussed by the authors.
Journal ArticleDOI
AMPK-dependent phosphorylation of MTFR1L regulates mitochondrial morphology
Lisa Tilokani,Fiona M. Russell,Stevie Hamilton,Daniel M. Virga,Mayuko Segawa,Vincent Paupe,Anja V. Gruszczyk,Margherita Protasoni,Luis Carlos Tábara,Mark H. Johnson,Hanish Anand,Michael P. Murphy,D. Grahame Hardie,Franck Polleux,Julien Prudent +14 more
TL;DR: In this paper , the function of the mitochondrial fission regulator 1-like protein (MTFR1L) was investigated, which is an uncharacterized protein that has been identified in phosphoproteomic screens as a potential AMPactivated protein kinase (AMPK) substrate.
Journal ArticleDOI
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.
Margherita Protasoni,Claudio Bruno,Maria Alice Donati,Khadra Mohamoud,Mariasavina Severino,Anna Allegri,Alan J. Robinson,Aurelio Reyes,Massimo Zeviani,Caterina Garone,Caterina Garone +10 more
TL;DR: Exome sequencing of a patient presenting with infantile-onset hepatopathy, renal tubular acidosis, developmental delay, short stature, leukoencephalopathy with minimal cerebellar involvement and multiple OXPHOS deficiencies revealed the presence of two novel pathogenic compound heterozygous variants in NUBPL.
Journal ArticleDOI
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia
Luis Carlos Tábara,Fatema Al-Salmi,Reza Maroofian,Amna Al-Futaisi,Fathiya Al-Murshedi,Joanna S. Kennedy,Jacob J. Day,Thomas Courtin,Aisha Al-Khayat,H Galedari,Neda Mazaheri,Margherita Protasoni,Mark H. Johnson,Joseph S Leslie,Claire G. Salter,Lettie E. Rawlins,James Fasham,Almundher Al-Maawali,Nikol Voutsina,Perrine Charles,L. Harrold,Boris Keren,Edmund R.S. Kunji,Barbara Vona,Gholamreza Jelodar,Alireza Sedaghat,Gholamreza Shariati,Henry Houlden,Andrew H. Crosby,Julien Prudent,Emma L. Baple +30 more
TL;DR: Findings identify autosomal recessive TMEM63C variants as a cause of pure and complex HSP and add to the growing evidence of a fundamental pathomolecular role of perturbed mitochondrial-endoplasmic reticulum dynamics in motor neurone degenerative diseases.