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Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Segel
Nov 21, 2018
OBJECTIVE: To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. METHODS...
PITML cerebellar atrophy Mitochondria Next generation sequencing Whole exome sequencing Adolescent Age of Onset Arabs Atrophy Cerebellar Diseases cerebellum Child Humans Loss of Function Mutation Male Metalloendopeptidases Mitochondria Mitochondrial Proteins Pedigree Exome Sequencing whole genome sequencing Young Adult
KIR Variation in Iranians Combines High Haplotype and Allotype Diversity With an Abundance of Functional Inhibitory Receptors.
Claudia Alicata, Elham Ashouri, Neda Nemat-Gorgani, Lisbeth A Guethlein, Wesley M Marin, Sudan Tao, Lorenzo Moretta, Jill A Hollenbach, John Trowsdale, James A Traherne, Abbas Ghaderi, Peter Parham, Paul J Norman
May 29, 2020
Natural killer (NK) cells are innate lymphocytes that eliminate infected and transformed cells. They discriminate healthy from diseased tissue through killer cell Ig-like receptor (KIR) recognition of HLA class I ligands....