Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
…, S Negri, S Courel, L Abreu, CJ Bacon, Y Bai… - Nature …, 2020 - nature.com
Here we report biallelic mutations in the sorbitol dehydrogenase gene (SORD) as the most
frequent recessive form of hereditary neuropathy. We identified 45 individuals from 38 …
frequent recessive form of hereditary neuropathy. We identified 45 individuals from 38 …
Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside
J Li, Y Bai, K Ghandour, P Qin, M Grandis… - Brain, 2005 - academic.oup.com
Skin biopsy is a minimally invasive procedure and has been used in the evaluation of non-myelinated,
but not myelinated nerve fibres, in sensory neuropathies. We therefore evaluated …
but not myelinated nerve fibres, in sensory neuropathies. We therefore evaluated …
Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice
Charcot–Marie–Tooth disease type 1B is caused by mutations in myelin protein zero. R98C
mice, an authentic model of early onset Charcot–Marie–Tooth disease type 1B, develop …
mice, an authentic model of early onset Charcot–Marie–Tooth disease type 1B, develop …
[HTML][HTML] Cardiac involvement in non-human primates infected with the Lyme disease spirochete Borrelia burgdorferi
To investigate cardiac involvement in the non-human primate (NHP) model of Lyme disease,
we inoculated 39 adult Macaca mulatta with Borrelia burgdorferi sensu stricto strains N40 (…
we inoculated 39 adult Macaca mulatta with Borrelia burgdorferi sensu stricto strains N40 (…
[HTML][HTML] Mutations in ATP1A1 cause dominant Charcot-Marie-Tooth type 2
Although mutations in more than 90 genes are known to cause CMT, the underlying genetic
cause of CMT remains unknown in more than 50% of affected individuals. The discovery of …
cause of CMT remains unknown in more than 50% of affected individuals. The discovery of …
Demyelinating CMT–what's known, what's new and what's in store?
KM Brennan, Y Bai, ME Shy - Neuroscience letters, 2015 - Elsevier
Inherited neuropathies known collectively as Charcot–Marie–Tooth disease are one of the
most common inherited neurological conditions affecting ∼1 in 2500 people. A heterogenous …
most common inherited neurological conditions affecting ∼1 in 2500 people. A heterogenous …
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot–Marie–Tooth disease type 1B
Mutations in myelin protein zero (MPZ) cause Charcot–Marie–Tooth disease type 1B. Many
dominant MPZ mutations, including R98C, present as infantile onset dysmyelinating …
dominant MPZ mutations, including R98C, present as infantile onset dysmyelinating …
Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B
Y Bai, X Wu, KM Brennan, DS Wang… - Annals of clinical …, 2018 - Wiley Online Library
Objective To determine the prevalence of MPZ mutations that cause Charcot Marie Tooth
neuropathy type 1B ( CMT 1B) and activate the unfolded protein Response ( UPR ). …
neuropathy type 1B ( CMT 1B) and activate the unfolded protein Response ( UPR ). …
A novel and effective approach to enhance the interfacial interactions of meta-aramid fibers
Meta-aramid paper exhibits some unique properties, including high temperature resistance,
electrical insulation. However, due to the inherent chemical inertness of aramid fibers, the …
electrical insulation. However, due to the inherent chemical inertness of aramid fibers, the …
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A
…, X Wu, R Zuccarino, C Bacon, Y Bai… - Annals of clinical …, 2020 - Wiley Online Library
Objective Development of biomarkers for Charcot‐Marie‐Tooth (CMT) disease is critical for
implementing effective clinical trials. The most common form of CMT, type 1A, is caused by a …
implementing effective clinical trials. The most common form of CMT, type 1A, is caused by a …