New paper published in @cp-cellreports.bsky.social from the lab of Dr. Subbareddy Maddika on essential regulators of Dynein function.

Read the paper here: sciencedirect.com/science/arti...

@devanshigupta.bsky.social

#dyneinfunction #lish #lissencephaly

We have yet another Fresh Graduate! 🎉

Next up in our Series of celebrating the work of our PhD Graduates, is @devanshigupta.bsky.social from the Laboratory of Cell Death & Cell Survival - Dr. Maddika Subba Reddy's Lab.

#phdthesis #LisHdomain #lissencephaly

On an MRI. It looked good!

Lots of wrinkly wrinkles.

No #Lissencephaly here!

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly | Nature Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of neurological conditions1. Lissencephaly (‘smooth brain’) spectrum disorders comprise a group of rare, genetically heterogeneous congenital brain malformations commonly associated with epilepsy and intellectual disability2. However, the molecular mechanisms underlying disease pathogenesis remain unknown. Here we establish hypoactivity of the mTOR pathway as a clinically relevant molecular mechanism in lissencephaly spectrum disorders. We characterized two types of cerebral organoid derived from individuals with genetically distinct lissencephalies with a recessive mutation in p53-induced death domain protein 1 (PIDD1) or a heterozygous chromosome 17p13.3 microdeletion leading to Miller–Dieker lissencephaly syndrome (MDLS). PIDD1-mutant orga

Study finds mTOR signaling dysregulation a key mechanism in #Lissencephaly disorders affecting cortex formation, linked to epilepsy & intellectual disability. PMID:39743596, Nature 2025, @Nature https://doi.org/10.1038/s41586-024-08341-9 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

My career taught me that I had to advocate for students and families, so it was a natural transition to do what I could do to become a patient advocate and to advocate for those of us with OT Ruth Sitkoff Hochheiser Orthostatic Tremor

It's acceptable for a doctor to say, 'I don't know,' but that should be followed up by at least a minimal effort to change that. Selena Bluntzer Hyperkalemic Periodic Paralysis SCN4A Mutation

I knew I needed to step up in my role as an advocate for Joy's sake. Robert Glenn on behalf of his daughter, Joy Double Cortex Syndrome, Lissencephaly

Even though we were informed there was no known treatment or cure and that very few medical professionals were even aware of APBD's existence, we felt a degree of relief and even elation that, at last, we knew what we were dealing with. Sarah Williams Adult Polyglucosan Body Disease

Kaleidoscope #RareDisease Stories features true stories from people with a variety of #rare diseases.
~🦋
https://a.co/d/3HxjJ6P
Proceeds donated to NORD
#OrthostaticTremor #HyperkalemicPeriodicParalysis #DoubleCortexSyndrome, #lissencephaly #APBD
#ChronicIllness #Rare #SpoonieSky #ZebraStrong

Multi-Omics Approach Reveals Genes and Pathways Affected in Miller-Dieker Syndrome - Molecular Neurobiology Miller-Dieker syndrome (MDS) is a rare neurogenetic disorder resulting from a heterozygous deletion of 26 genes in the MDS locus on human chromosome 17. MDS patients often die in utero and only 10% of...

Can finally talk re this article that has been embargoed for a LONG time. For the lissencephaly crowd out there (
@jbstwocents.bsky.social among others), thanks for all you have done. It wouldn't have been possible without your years of work.
#lissencephaly
link.springer.com/article/10.1...

👇🇨🇦"'We can't speak': Barenaked Ladies band member on connecting to daughter through music"
#BarenakedLadies #Lissencephaly
www.ctvnews.ca/w5/we-can-t-...