The emerging mechanisms and functions of microautophagy
Abstract 'Autophagy'refers to an evolutionarily conserved process through which cellular
contents, such as damaged organelles and protein aggregates, are delivered to lysosomes …
contents, such as damaged organelles and protein aggregates, are delivered to lysosomes …
The genetics of primary microcephaly
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 …
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
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 …
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 …
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 …
and in some cases received an evolutionary advantage from doing so. This process …
Cellular commitment in the developing cerebellum
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 …
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 …
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 …
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 …
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 …
significantly over the past 20 years owing to advances in neuroimaging. Nowadays …