The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review
XR Huang, BS Tang, P Jin, JF Guo - Molecular Neurobiology, 2022 - Springer
The human-specific gene NOTCH2NLC is primarily expressed in radial glial cells and plays
an important role in neuronal differentiation and cortical neurogenesis. Increasing studies …
an important role in neuronal differentiation and cortical neurogenesis. Increasing studies …
NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation
Y Fan, Y Xu, C Shi - Journal of medical genetics, 2022 - jmg.bmj.com
GGC repeat expansion in the 5′ untranslated region of NOTCH2NLC is the most common
causative factor in neuronal intranuclear inclusion disease (NIID) in Asians. Such expanded …
causative factor in neuronal intranuclear inclusion disease (NIID) in Asians. Such expanded …
GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration
Q Liu, J Chen, J Xue, X Zhou, Y Tian… - European Journal of …, 2024 - Wiley Online Library
Background and purpose The role of GGC repeat expansions within NOTCH2NLC in
Parkinson's disease (PD) and the substantia nigra (SN) dopaminergic neuron remains …
Parkinson's disease (PD) and the substantia nigra (SN) dopaminergic neuron remains …
Recent advances in novel mutation genes of Parkinson's disease
J Yang, X Wu, Y Song - Journal of Neurology, 2023 - Springer
With increasing life expectancy, a growing number of individuals are being affected by
Parkinson's Disease (PD), a Neurodegenerative Disease (ND). Approximately, 5–10% of PD …
Parkinson's Disease (PD), a Neurodegenerative Disease (ND). Approximately, 5–10% of PD …
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients
A Manini, D Gagliardi, M Meneri, S Antognozzi… - Scientific Reports, 2023 - nature.com
Repeat expansions in genes other than C9orf72 and ATXN2 have been recently associated
with Amyotrophic Lateral Sclerosis (ALS). Indeed, an abnormal number of GGC repeats in …
with Amyotrophic Lateral Sclerosis (ALS). Indeed, an abnormal number of GGC repeats in …
Intermediate-Length GGC Repeat Expansion in NOTCH2NLC Was Identified in Chinese Patients with Amyotrophic Lateral Sclerosis
M Wan, J He, J Huo, C Sun, Y Fu, D Fan - Brain Sciences, 2023 - mdpi.com
GGC repeat expansions in the 5'untranslated region (5'UTR) of the Notch Homolog 2 N-
terminal-like C gene (NOTCH2NLC) have been reported to be the genetic cause of neuronal …
terminal-like C gene (NOTCH2NLC) have been reported to be the genetic cause of neuronal …
GC-rich repeat expansions: associated disorders and mechanisms
C Schröder, B Horsthemke, C Depienne - Medizinische Genetik, 2022 - degruyter.com
Noncoding repeat expansions are a well-known cause of genetic disorders mainly affecting
the central nervous system. Missed by most standard technologies used in routine …
the central nervous system. Missed by most standard technologies used in routine …
Questions on NOTCH2NLC Repeat Expansions in Parkinson Disease—Reply
3. Mukerji SS, Solomon IH. What can we learn from brain autopsies in COVID-19? Neurosci
Lett. 2021; 742: 135528. doi: 10.1016/j. neulet. 2020.135528 4. Jensen MP, Le Quesne J …
Lett. 2021; 742: 135528. doi: 10.1016/j. neulet. 2020.135528 4. Jensen MP, Le Quesne J …