Genome editing in induced pluripotent stem cells using CRISPR/Cas9

R Ben Jehuda, Y Shemer, O Binah - Stem Cell Reviews and Reports, 2018 - Springer
The development of the reprogramming technology led to generation of induced Pluripotent
Stem Cells (iPSC) from a variety of somatic cells. Ever since, fast growing knowledge of …

Clinical genetics of Charcot–Marie–Tooth disease

Y Higuchi, H Takashima - Journal of Human Genetics, 2023 - nature.com
Recent research in the field of inherited peripheral neuropathies (IPNs) such as Charcot–
Marie–Tooth (CMT) disease has helped identify the causative genes provided better …

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

IV Mersiyanova, AV Perepelov, AV Polyakov… - The American Journal of …, 2000 - cell.com
Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory
neuropathy. The axonal form of the disease is designated as" CMT type 2"(CMT2). Although …

[HTML][HTML] The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement

H Ishiura, W Sako, M Yoshida, T Kawarai… - The American Journal of …, 2012 - cell.com
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is
an autosomal-dominant neurodegenerative disorder characterized by widespread …

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

K Peeters, T Chamova, A Jordanova - Brain, 2014 - academic.oup.com
Hereditary spinal muscular atrophy is a motor neuron disorder characterized by muscle
weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord …

Prevalence and incidence of amyotrophic lateral sclerosis in Japan

Y Doi, N Atsuta, G Sobue, M Morita… - Journal of …, 2014 - jstage.jst.go.jp
Background: Previous studies have reported a high incidence of amyotrophic lateral
sclerosis (ALS) in endemic foci in the Kii Peninsula, Japan. However, little is known about …

[PDF][PDF] Hyperlipidemia: etiology and possible control

PE Onwe, MA Folawiyo… - IOSR J Dent …, 2015 - pfigshare-u-files.s3.amazonaws.com
Hyperlipidemia is a condition characterized by an elevation of any or all lipid profile and/or
lipoproteins in the blood. Although elevated low density lipoprotein cholesterol (LDL) is …

The phenotypic manifestations of autosomal recessive axonalCharcot–Marie–Tooth due to a mutation in Lamin A/C gene

M Chaouch, Y Allal, A De Sandre-Giovannoli… - Neuromuscular …, 2003 - Elsevier
Charcot–Marie–Tooth disease constitutes a genetically heterogeneous group of hereditary
motor and sensory peripheral neuropathies. The axonal type of Charcot–Marie–Tooth is …

TFG binds LC3C to regulate ULK1 localization and autophagosome formation

M Carinci, B Testa, M Bordi, G Milletti, M Bonora… - The EMBO …, 2021 - embopress.org
The early secretory pathway and autophagy are two essential and evolutionarily conserved
endomembrane processes that are finely interlinked. Although growing evidence suggests …

[HTML][HTML] Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

SH Nam, BO Choi - Precision and Future Medicine, 2019 - pfmjournal.org
Abstract Charcot-Marie-Tooth disease (CMT) is one of the most common inherited
neuropathies and is both genetically and clinically heterogeneous, with variable inheritance …