Article

Capturing the biology of disease severity in an organoid model of LIS1-lissencephaly

2022-12-19

Abstract excerpt

Lissencephaly is a malformation of cortical development (MCD) characterized by reduced to absent gyri and a disorganized cortex, leading to severe neurological consequences in affected individuals, including epilepsy, intellectual disability, and reduced life expectancy. Treatments are purely symptomatic, and patients often remain refractory to them. Heterozygous mutations in the LIS1 gene, encoding a regulator o...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 0da87889-98db-5c7c-8379-24b60ab87f89
DOI: 10.1101/2022.12.19.520907

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Capturing the biology of disease severity in an organoid model of LIS1-lissencephalyDOI 10.1101/2022.12.19.520907Read

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.Semantic proximity Read

Lissencephaly: Expanded imaging and clinical classification.Semantic proximity Read

A phenotypic brain organoid atlas for neurodevelopmental disordersSemantic proximity Read

Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.Semantic proximity Read

A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders.Semantic proximity Read

Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion, and drug screeningSemantic proximity Read

Optimization and scaling of patient-derived brain organoids uncovers deep phenotypes of diseaseSemantic proximity Read

Hallmark molecular and pathological features of POLG disease are recapitulated in cerebral organoidsSemantic proximity Read

Human brain organoids reveal accelerated development of cortical neuron classes as a shared feature of autism risk genesSemantic proximity Read

Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly.Semantic proximity Read

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.Semantic proximity Read

Lissencephaly 1 linking to multiple diseases: mental retardation, neurodegeneration, schizophrenia, male sterility, and more.Semantic proximity Read