Publications by authors named "Roberto Montoro Ferrer"
X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder resulting from pathogenic variants in the ABCD1 gene that primarily affects the nervous system and is characterized by progressive axonal degeneration in the spinal cord and peripheral nerves and leukodystrophy. Dysfunction of peroxisomal very long-chain fatty acid (VLCFA) degradation has been implicated in ALD pathology, but the impact on astrocytes, which critically support neuronal function, remains poorly understood. Fibroblasts from four ALD patients were reprogrammed to generate human-induced pluripotent stem cells (hiPSC).
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- * Intrathecal (IT) delivery of AAV vectors can bypass some of these problems but has limitations in distribution and potential liver toxicity.
- * Researchers identified improved AAV capsids through testing in non-human primates, which demonstrated better retention in the spinal cord and lower distribution to the liver, making them promising candidates for spinal cord gene therapies compared to traditional AAV9.