Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
S Yamamoto, O Kanca, MF Wangler… - Nature Reviews …, 2024 - nature.com
Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …
variants of interest in individuals with rare diseases. However, showing that these variants …
Autophagy: a multifaceted player in the fate of sperm
M Wang, L Zeng, P Su, L Ma, M Zhang… - Human Reproduction …, 2022 - academic.oup.com
BACKGROUND Autophagy is an intracellular catabolic process of degrading and recycling
proteins and organelles to modulate various physiological and pathological events …
proteins and organelles to modulate various physiological and pathological events …
Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway
Fragile X messenger ribonucleoprotein 1 protein (FMRP) binds many mRNA targets in the
brain. The contribution of these targets to fragile X syndrome (FXS) and related autism …
brain. The contribution of these targets to fragile X syndrome (FXS) and related autism …
Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies
F Althammer, F Muscatelli, V Grinevich… - Translational …, 2022 - nature.com
The prosocial neuropeptide oxytocin is being developed as a potential treatment for various
neuropsychiatric disorders including autism spectrum disorder (ASD). Early studies using …
neuropsychiatric disorders including autism spectrum disorder (ASD). Early studies using …
Autophagy deficiency in neurodevelopmental disorders
Autophagy is a cell self-digestion pathway through lysosome and plays a critical role in
maintaining cellular homeostasis and cytoprotection. Characterization of autophagy related …
maintaining cellular homeostasis and cytoprotection. Characterization of autophagy related …
FDA-approved kinase inhibitors in preclinical and clinical trials for neurological disorders
A Lui, J Vanleuven, D Perekopskiy, D Liu, D Xu… - Pharmaceuticals, 2022 - mdpi.com
Cancers and neurological disorders are two major types of diseases. We previously
developed a new concept termed “Aberrant Cell Cycle Diseases”(ACCD), revealing that …
developed a new concept termed “Aberrant Cell Cycle Diseases”(ACCD), revealing that …
A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels
Loss-of-function mutations in MECP2 cause Rett syndrome (RTT), a severe neurological
disorder that mainly affects girls. Mutations in MECP2 do occur in males occasionally and …
disorder that mainly affects girls. Mutations in MECP2 do occur in males occasionally and …
A proteomic atlas of cardiac amyloid plaques
Background In vivo mechanisms of amyloid clearance and cardiac tissue damage in cardiac
amyloidosis are not well understood. Objectives We aimed to define and quantify the …
amyloidosis are not well understood. Objectives We aimed to define and quantify the …
The impact of oxytocin on neurite outgrowth and synaptic proteins in Magel2‐deficient mice
A Reichova, F Schaller, S Bukatova… - Developmental …, 2021 - Wiley Online Library
Oxytocin contributes to the regulation of cytoskeletal and synaptic proteins and could,
therefore, affect the mechanisms of neurodevelopmental disorders, including autism. Both …
therefore, affect the mechanisms of neurodevelopmental disorders, including autism. Both …
A comprehensive review of genetically engineered mouse models for Prader-Willi syndrome research
DM Kummerfeld, CA Raabe, J Brosius, D Mo… - International journal of …, 2021 - mdpi.com
Prader-Willi syndrome (PWS) is a neurogenetic multifactorial disorder caused by the
deletion or inactivation of paternally imprinted genes on human chromosome 15q11-q13 …
deletion or inactivation of paternally imprinted genes on human chromosome 15q11-q13 …