@ShorterLab

Countering deleterious phase transitions in ALS/FTD, PD, AD, and related disorders @Penn @PennMedicine @bb_upenn @BMBGGUPENN @PGGUPenn @PennNGG @CAMBUpenn

 University of Pennsylvania
med.upenn.edu/shorterlab/index.html
Joined January 2012
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Biased stochastic motor dynamics drive bidirectional, processive translocation by the AAA+ disaggregase Hsp104: biorxiv.org/content/10.64898… – at Millbourne, PA
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De novo variants in the essential splicing factor gene SRSF3 cause variable developmental phenotypes: The American Journal of Human Genetics cell.com/ajhg/fulltext/S0002…

De novo variants in the essential splicing factor gene SRSF3 cause variable developmental phenotypes

We describe nine subjects with de novo variants in the splicing factor gene SRSF3 presenting with variable phenotypes, including developmental delay and/or intellectual disability. Functional studies...

cell.com
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The genetic architecture of pentanucleotide repeat variation and disease association: The American Journal of Human Genetics cell.com/ajhg/fulltext/S0002…

The genetic architecture of pentanucleotide repeat variation and disease association

Xu et al. characterize the landscape of pentanucleotide tandem repeat variation at base-pair resolution across two long-read sequencing cohorts. They contextualize features of known pathogenic loci...

cell.com
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Structural analysis of de novo-designed binders targeting the closed state of HSP90: Structure cell.com/structure/fulltext/… – at Millbourne, PA

Structural analysis of de novo-designed binders targeting the closed state of HSP90

Srivastava et al. show that de novo-designed protein binders can selectively recognize the closed state of HSP90. The binders stabilize this conformation and provide new tools to study the HSP90...

cell.com
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Tau isoform mapping across tissues and biofluids reveals a signature distinguishing Alzheimer’s disease from amyotrophic lateral sclerosis: nature.com/articles/s41467-0… – at Millbourne, PA

Tau isoform mapping across tissues and biofluids reveals a signature distinguishing Alzheimer’s...

Nature Communications - Blood p-tau217 is a leading Alzheimer’s test but is also raised in ALS. Here, the authors show that muscle makes its own form of tau which leaks into the blood, and...

nature.com
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ShorterLab retweeted
John Clark
@JClarkNBCS5h
Sixers season opener is tonight. Every fan will get a white Sixers shirt #throwtheballup
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CryAB-driven amyloidogenesis in Drosophila muscle engages extracellular vesicle pathways for cellular release: iScience cell.com/iscience/fulltext/S… – at Philadelphia, PA

CryAB-driven amyloidogenesis in Drosophila muscle engages extracellular vesicle pathways for...

Biological sciences; Molecular biology; Neuroscience

cell.com
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I'm obsessed with these empty clathrin cages people are seeing in neurons, and don't understand why others are not. So I put everything together and wrote a brief review (Current Opinion in Neurobiology, free access for 50 days): sciencedirect.com/science/ar…
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Phosphorylation of α-Synuclein Directs Trafficking of the v-SNARE Synaptobrevin-2 jneurosci.org/content/46/42/…

Phosphorylation of α-Synuclein Directs Trafficking of the v-SNARE Synaptobrevin-2

α-Synuclein has been extensively studied for its role in Parkinson's disease; however, its native function remains unclear. Several lines of evidence suggest it modulates presynaptic function. As...

jneurosci.org
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Cas9 nickase–mediated contraction of CAG/CTG repeats is associated with phenotypic improvements in a Huntington’s disease mouse model: science.org/doi/10.1126/scit…

Cas9 nickase–mediated contraction of CAG/CTG repeats is associated with phenotypic improvements in...

Cas9 nickase contracts CAG/CTG repeats in Huntington’s disease patient–derived medium spiny neurons and in a mouse disease model.

science.org
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Single-nucleotide polymorphism–directed design of allele-specific antisense oligonucleotides for spinocerebellar ataxia type 3: science.org/doi/10.1126/scit…

Single-nucleotide polymorphism–directed design of allele-specific antisense oligonucleotides for...

Haplotype-informed sequencing identified target SNPs in ATXN3 for selective reduction of mutant ataxin-3 by ASOs.

science.org
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Persistent neuronal stress signalling underlies Angelman syndrome phenotypes: nature.com/articles/s41586-0…

Persistent neuronal stress signalling underlies Angelman syndrome phenotypes

Nature - Genetic and proteomic analyses in human neurons and mouse models of Angelman syndrome (AS) show that loss of the ubiquitin ligase UBE3A leads to an overabundance of asparagine synthetase,...

nature.com
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Protein arginine methylation promotes global 3′UTR shortening in proliferating cells: cell.com/molecular-cell/full…

Protein arginine methylation promotes global 3′UTR shortening in proliferating cells

Griffith et al. show that arginine methylation drives production of short mRNA isoforms in rapidly dividing cells by enabling PCF11 to assemble productively into the cleavage and polyadenylation...

cell.com
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Running in reverse: Tau redirects mitochondrial electron flow toward neurodegeneration: cell.com/neuron/abstract/S08…

Running in reverse: Tau redirects mitochondrial electron flow toward neurodegeneration

In this issue of Neuron, Li et al. show that tau enters mitochondria and binds NDUFS3 to regulate reverse electron transport (RET) in a phosphorylation-dependent manner. RET promotes tau phosphoryl...

cell.com
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PARG inhibition elicits cytotoxicity by sequestering XRCC1 and other PAR-binding proteins into PAR-dependent nuclear condensates: nature.com/articles/s41467-0…

PARG inhibition elicits cytotoxicity by sequestering XRCC1 and other PAR-binding proteins into...

Nature Communications - While PARP inhibitors are well characterized, predictive biomarkers for PARG inhibition are undefined. Here, the authors propose a unified mechanism in which the...

nature.com
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Behind the Science: Digging for clues into the mechanisms of ALS med.stanford.edu/news/insigh…

Behind the Science: Digging for clues into the mechanisms of ALS

Why only some motor neurons degenerate has long been one of the major mysteries of amyotrophic lateral sclerosis. Stanford Medicine’s Aaron Gitler and team are searching for answers.

med.stanford.edu
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Fibres and glasses are competing material states in protein condensation: nature.com/articles/s41567-0… – at Philadelphia, PA

Fibres and glasses are competing material states in protein condensation

Nature Physics - Fibres are thought to emerge from a dense protein condensate ageing into a glassy state. It is now shown that protein fibres and glassy condensates may result from two competing...

nature.com
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SIXERS BEAT KNICKS 106-100 IN SEASON OPENER AT MSG TYRESE MAXEY WITH 28 POINTS JAYLEN BROWN WITH 19, LEBRON JAMES WITH 14, AND JOEL EMBIID WITH 13 #THROWTHEBALLUP PLAY THE SONG
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ShorterLab retweeted
Philadelphia 76ers
@sixersOct 21
W.
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Philadelphia 76ers
@sixersOct 21
FIRST W OF THE SEASON. @Bloom_Energy
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ShorterLab retweeted
Philadelphia 76ers
@sixersOct 21
BUSINESS HANDLED.
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