[HTML][HTML] Nuclear transport proteins: Structure, function, and disease relevance

Y Yang, L Guo, L Chen, B Gong, D Jia… - Signal Transduction and …, 2023 - nature.com
Proper subcellular localization is crucial for the functioning of biomacromolecules, including
proteins and RNAs. Nuclear transport is a fundamental cellular process that regulates the …

[HTML][HTML] Generating membrane curvature at the nuclear pore: A lipid point of view

BWA Peeters, ACA Piët, M Fornerod - Cells, 2022 - mdpi.com
In addition to its structural role in enclosing and protecting the genome, the nuclear
envelope (NE) forms a highly adaptive communication interface between the cytoplasm and …

[HTML][HTML] Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

C Arrondel, S Missoury, R Snoek, J Patat… - Nature …, 2019 - nature.com
N6-threonyl-carbamoylation of adenosine 37 of ANN-type tRNAs (t6A) is a universal
modification essential for translational accuracy and efficiency. The t6A pathway uses two …

The genomics of ecological flexibility, large brains, and long lives in capuchin monkeys revealed with fecalFACS

JD Orkin, MJ Montague… - Proceedings of the …, 2021 - National Acad Sciences
Ecological flexibility, extended lifespans, and large brains have long intrigued evolutionary
biologists, and comparative genomics offers an efficient and effective tool for generating new …

[HTML][HTML] Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

DA Parry, CA Martin, P Greene, JA Marsh, M Blyth… - Genetics in …, 2021 - nature.com
Purpose Lamins are the major component of nuclear lamina, maintaining structural integrity
of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders …

[HTML][HTML] Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis

P Magini, DJ Smits, L Vandervore, R Schot… - The American Journal of …, 2019 - cell.com
Sphingomyelinases generate ceramide from sphingomyelin as a second messenger in
intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis …

Nuclear pore complexes in development and tissue homeostasis

V Guglielmi, S Sakuma, MA D'Angelo - Development, 2020 - journals.biologists.com
Nuclear pore complexes are multiprotein channels that span the nuclear envelope, which
connects the nucleus to the cytoplasm. In addition to their main role in the regulation of …

SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes

DJ Smits, R Schot, N Krusy, K Wiegmann… - Brain, 2023 - academic.oup.com
Biallelic loss-of-function variants in SMPD4 cause a rare and severe neurodevelopmental
disorder with progressive congenital microcephaly and early death. SMPD4 encodes a …

[HTML][HTML] Congenital microcephaly: a debate on diagnostic challenges and etiological paradigm of the shift from isolated/non-syndromic to syndromic microcephaly

M Asif, U Abdullah, P Nürnberg, S Tinschert… - Cells, 2023 - mdpi.com
Congenital microcephaly (CM) exhibits broad clinical and genetic heterogeneity and is thus
categorized into several subtypes. However, the recent bloom of disease–gene discoveries …

[HTML][HTML] Genome-wide association study for single nucleotide polymorphism associated with mural and cumulus granulosa cells of PCOS (polycystic ovary syndrome) …

P Pant, H Chitme, R Sircar, R Prasad… - Future Journal of …, 2023 - Springer
Background The genetic make-up of local granulosa cells and their function in the
pathophysiology of polycystic ovary syndrome (PCOS) is crucial to a full comprehension of …