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'Smooth brain' disorders may share a common cause—and a potential treatment
Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and intellectual disability and ...
technologynetworks1mon
Yale Study Uncovers Molecular Pathway for Treating Lissencephaly
Yale researchers discovered that an underactive mTOR pathway drives structural malformations in lissencephaly. Using patient-derived brain organoids, they showed that activating the mTOR pathway ...
Medscape6d
Genotype-Phenotype Correlation in Lissencephaly and Subcortical Band Heterotopia: The Key Questions Answered
What Is the Significance of the Different Anteroposterior Patterns of Malformation Severity in Classic Lissencephaly? Spectrum of lissencephaly severity caused by LIS1 deletions or mutations.
Nature1mon
Regulators of the cytoplasmic dynein motor
Two dynein adaptors, dynactin and a complex of lissencephaly 1 (Lis1) and nuclear distribution protein E (NUDE) or NUDE-like (NUDEL) seem to be ubiquitously required for all dynein functions.
EurekAlert!1mon
‘Smooth brain’ disorders may share a common cause — and potential treatment
New Haven, Conn. — Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and ...
Medscape11d
Genotype-Phenotype Correlation in Lissencephaly and Subcortical Band Heterotopia: The Key Questions Answered
Do Mutations in DCX Ever Result in Lissencephaly in Female Subjects or Subcortical Band Heterotopia in Male Subjects? On the other hand, female subjects have been identified with an anterior ...