The emerging mechanisms and functions of microautophagy

L Wang, DJ Klionsky, HM Shen - Nature reviews Molecular cell biology, 2023 - nature.com
Abstract 'Autophagy'refers to an evolutionarily conserved process through which cellular
contents, such as damaged organelles and protein aggregates, are delivered to lysosomes …

The genetics of primary microcephaly

D Jayaraman, BI Bae, CA Walsh - Annual review of genomics …, 2018 - annualreviews.org
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 …

Accessory ESCRT‐III proteins are conserved and selective regulators of Rab11a‐exosome formation

PP Marie, SJ Fan, J Mason, A Wells… - Journal of …, 2023 - Wiley Online Library
Exosomes are secreted nanovesicles with potent signalling activity that are initially formed
as intraluminal vesicles (ILVs) in late Rab7‐positive multivesicular endosomes, and also in …

Hedgehog signal and genetic disorders

N Sasai, M Toriyama, T Kondo - Frontiers in Genetics, 2019 - frontiersin.org
The hedgehog (Hh) family comprises sonic hedgehog (Shh), Indian hedgehog (Ihh), and
desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide …

Signatures of archaic adaptive introgression in present-day human populations

F Racimo, D Marnetto… - Molecular biology and …, 2017 - academic.oup.com
Comparisons of DNA from archaic and modern humans show that these groups interbred,
and in some cases received an evolutionary advantage from doing so. This process …

Cellular commitment in the developing cerebellum

H Marzban, MR Del Bigio, J Alizadeh… - Frontiers in cellular …, 2015 - frontiersin.org
The mammalian cerebellum is located in the posterior cranial fossa and is critical for motor
coordination and non-motor functions including cognitive and emotional processes. The …

Identification of sixteen novel candidate genes for late onset Parkinson's disease

A Gialluisi, MG Reccia, N Modugno, T Nutile… - Molecular …, 2021 - Springer
Background Parkinson's disease (PD) is a neurodegenerative movement disorder affecting
1–5% of the general population for which neither effective cure nor early diagnostic tools are …

Termination of STING responses is mediated via ESCRT‐dependent degradation

KR Balka, R Venkatraman, TL Saunders… - The EMBO …, 2023 - embopress.org
Abstract cGAS‐STING signalling is induced by detection of foreign or mislocalised host
double‐stranded (ds) DNA within the cytosol. STING acts as the major signalling hub, where …

What's new in pontocerebellar hypoplasia? An update on genes and subtypes

T van Dijk, F Baas, PG Barth, BT Poll-The - Orphanet Journal of Rare …, 2018 - Springer
Background Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of
neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia …

Congenital abnormalities of the posterior fossa

T Bosemani, G Orman, E Boltshauser, A Tekes… - Radiographics, 2015 - pubs.rsna.org
The frequency and importance of the evaluation of the posterior fossa have increased
significantly over the past 20 years owing to advances in neuroimaging. Nowadays …