The lysosomal degradation pathway of autophagy plays a fundamental role in cellular,
tissue, and organismal homeostasis and is mediated by evolutionarily conserved autophagy …

Primary microcephaly (MCPH, for “microcephaly primary hereditary”) is a disorder of brain
development that results in a head circumference more than 3 standard deviations below …

Background Whole genome sequencing is increasingly being used for the diagnosis of
patients with rare diseases. However, the diagnostic yields of many studies, particularly …

Autosomal recessive primary microcephaly (MCPH;“small head syndrome”) is a rare,
heterogeneous disease arising from the decreased production of neurons during brain …

Abstract Asparaginyl-tRNA synthetase1 (NARS1) is a member of the ubiquitously expressed
cytoplasmic Class IIa family of tRNA synthetases required for protein translation. Here, we …

Autophagy is a highly conserved intracellular clearance pathway in which cytoplasmic
contents are trafficked to the lysosome for degradation. Within neurons, it helps to remove …

Microcephaly or reduced head circumference results from a multitude of abnormal
developmental processes affecting brain growth and/or leading to brain atrophy. Autosomal …

Objectives Available literature documents that ischemic stroke can disrupt the morphology
and function of mitochondria and that the latter in other disease models can be preserved by …

Combinatorial CRISPR-Cas screens have advanced the mapping of genetic interactions,
but their experimental scale limits the number of targetable gene combinations. Here, we …

Primary dysfunction of autophagy due to Mendelian defects affecting core components of the
autophagy machinery or closely related proteins have recently emerged as an important …