Search Results - "Van Lent, Jonas"
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Harmony in chaos: understanding cancer through the lenses of developmental biology
Published in Molecular oncology (01-04-2024)“…When we think about cancer, the link to development might not immediately spring to mind. Yet, many foundational concepts in cancer biology trace their roots…”
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A weakened interface in the P182L variant of HSP27 associated with severe Charcot‐Marie‐Tooth neuropathy causes aberrant binding to interacting proteins
Published in The EMBO journal (15-04-2021)“…HSP27 is a human molecular chaperone that forms large, dynamic oligomers and functions in many aspects of cellular homeostasis. Mutations in HSP27 cause…”
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Advances and challenges in modeling inherited peripheral neuropathies using iPSCs
Published in Experimental & molecular medicine (01-06-2024)“…Inherited peripheral neuropathies (IPNs) are a group of diseases associated with mutations in various genes with fundamental roles in the development and…”
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Defects in Axonal Transport in Inherited Neuropathies
Published in Journal of neuromuscular diseases (01-01-2019)“…Axonal transport is a highly complex process essential for sustaining proper neuronal functioning. Disturbances can result in an altered neuronal homeostasis,…”
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Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A
Published in Brain (London, England : 1878) (03-07-2023)“…Abstract Charcot–Marie–Tooth disease is the most common inherited disorder of the PNS. CMT1A accounts for 40–50% of all cases and is caused by a duplication of…”
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Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction
Published in Brain (London, England : 1878) (04-09-2021)“…Axonal Charcot-Marie-Tooth neuropathies (CMT type 2) are caused by inherited mutations in various genes functioning in different pathways. The types of genes…”
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A reference human induced pluripotent stem cell line for collaborative studies
Published in Cell stem cell (01-12-2022)Get full text
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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Published in Brain (London, England : 1878) (01-12-2023)“…Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders…”
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Genetic pain loss disorders
Published in Nature reviews. Disease primers (16-06-2022)“…Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory neuropathies and, if autonomic nerves are involved, hereditary sensory…”
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