Research graph
References from Peripheral neuropathy in a mouse model lacking GBA1 in Schwann cells. Local targets link to admitted publications; unresolved targets remain external evidence.
Polyneuropathy in Gaucher disease type 1 and 3 – a descriptive case series
10.1038/s41598-019-51976-2 · 2019 · External reference
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
10.1073/pnas.0905523106 · 2009 · External reference
Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells
10.1093/hmg/ddv297 · 2015 · External reference
‘Non-neuronopathic’ Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature
10.1007/s10545-008-0832-y · 2008 · External reference
Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study
10.1093/brain/awq198 · 2010 · External reference
Peripheral nervous system diseases in morbus Gaucher. New data based on electron microscopy
1967 · External reference
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis
10.1083/jcb.200407010 · 2004 · External reference
Inhibition of microglial β-glucocerebrosidase hampers the microglia-mediated antioxidant and protective response in neurons
10.1186/s12974-021-02272-2 · 2021 · External reference
Salbutamol repurposing ameliorates neuromuscular junction defects and muscle atrophy in Col6a1−/− mouse model of collagen VI-related myopathies
10.1002/ctm2.1688 · 2024 · External reference
Collagen VI regulates peripheral nerve regeneration by modulating macrophage recruitment and polarization
10.1007/s00401-014-1369-9 · 2015 · External reference
Neuromuscular junction changes in a mouse model of Charcot-Marie-tooth disease type 4C
10.3390/ijms19124072 · 2018 · External reference
An index of the functional condition of rat sciatic nerve based on measurements made from walking tracks
10.1016/0014-4886(82)90234-5 · 1982 · External reference
Chronic pain in Gaucher disease: skeletal or neuropathic origin?
10.1186/s13023-017-0700-7 · 2017 · External reference
Effective cell and gene therapy in a murine model of Gaucher disease
10.1073/pnas.0606016103 · 2006 · External reference
Murine models of acute neuronopathic Gaucher disease
10.1073/pnas.0708086104 · 2007 · External reference
N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson’s disease
10.1002/mds.27119 · 2017 · External reference
Schwann cell autophagy, myelinophagy, initiates myelin clearance from injured nerves
10.1083/jcb.201503019 · 2015 · External reference
Schwann cell interactions with axons and microvessels in diabetic neuropathy
10.1038/nrneurol.2016.201 · 2017 · External reference
GBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice
10.1186/s13024-024-00713-z · 2024 · External reference
Are symptoms of peripheral neuropathy more prevalent in patients with Gaucher disease?
10.1111/j.1600-0404.2006.00774.x · 2007 · External reference
Neurological symptoms in adults with Gaucher disease: a systematic review
10.1007/s00415-024-12439-5 · 2024 · External reference
Autophagy is involved in the reduction of myelinating Schwann cell cytoplasm during myelin maturation of the peripheral nerve
2015 · External reference
The repair Schwann cell and its function in regenerating nerves
10.1113/jp270874 · 2016 · External reference
The success and failure of the Schwann cell response to nerve injury
10.3389/fncel.2019.00033 · 2019 · External reference
NMJ-morph reveals principal components of synaptic morphology influencing structure–function relationships at the neuromuscular junction
10.1098/rsob.160240 · 2016 · External reference
Isolation and expansion of Schwann cells from transgenic mouse models
2018 · External reference
Dysregulation of mitochondria-lysosome contacts by GBA1 dysfunction in dopaminergic neuronal models of Parkinson’s disease
10.1038/s41467-021-22113-3 · 2021 · External reference
Nonuniform molecular features of myelinating Schwann cells in models for CMT1: distinct disease patterns are associated with NCAM and c-Jun upregulation
10.1002/glia.22638 · 2014 · External reference
Peroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy
10.7554/elife.23332 · 2017 · External reference
Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination
10.1038/ng1095 · 2003 · External reference
Proteasome inhibition suppresses Schwann cell dedifferentiation in vitro and in vivo
10.1002/glia.20894 · 2009 · External reference
Mutations associated with Charcot–Marie–tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome–autophagy pathways
10.1242/jcs.087114 · 2011 · External reference
Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot–Marie–tooth disease type 1C
10.1093/hmg/ddt022 · 2013 · External reference
Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease
10.1093/hmg/ddw185 · 2016 · External reference
Schwann cell autophagy counteracts the onset and chronification of neuropathic pain
10.1016/j.pain.2013.09.013 · 2014 · External reference
Evolution and clustering of prodromal parkinsonian features in GBA1 carriers
10.1002/mds.27775 · 2019 · External reference
The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression
10.1093/hmg/dds562 · 2013 · External reference
C-Jun is a negative regulator of myelination
10.1083/jcb.200803013 · 2008 · External reference
A neurological symptom survey of patients with type I Gaucher disease
10.1023/b:boli.0000005623.60471.51 · 2003 · External reference
Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies
10.1016/j.clinthera.2007.08.006 · 2007 · External reference
Lysosomal storage diseases
2018 · External reference
Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot–Marie–tooth 4B2-like peripheral neuropathy in mice
10.1073/pnas.0800742105 · 2008 · External reference
Lysosome and inflammatory defects in GBA1-mutant astrocytes are normalized by LRRK2 inhibition
10.1002/mds.27994 · 2020 · External reference
Advances in peripheral nerve regeneration
10.1038/nrneurol.2013.227 · 2013 · External reference
Administration of the nonsteroidal anti-inflammatory drug tolfenamic acid at embryo transfer improves maintenance of pregnancy and embryo survival in recipient mice
10.1007/s10815-014-0378-x · 2015 · External reference
Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot–Marie–Tooth type 2D mice
10.1093/hmg/ddt659 · 2014 · External reference
A review of Gaucher disease pathophysiology, clinical presentation and treatments
10.3390/ijms18020441 · 2017 · External reference
Charcot–Marie–Tooth disease
10.1038/ejhg.2009.31 · 2009 · External reference
Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2
10.1093/hmg/ddm257 · 2007 · External reference
Immunohistochemical analysis of myelin structures
2018 · External reference
Enhancement of immunotoxin activity using chemical and biological reagents
10.1038/bjc.1997.228 · 1997 · External reference
Lysosomal dysfunction in Schwann cells is involved in bortezomib-induced peripheral neurotoxicity
10.1007/s00204-023-03468-6 · 2023 · External reference
