ShorterLab@ShorterLab

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

 University of Pennsylvania
Based in United States
med.upenn.edu/shorterlab/ind…
Joined January 2012
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LRSAM1, an E3 ubiquitin ligase, modulates TDP-43 proteostasis in amyotrophic lateral sclerosis: academic.oup.com/brain/advan…

LRSAM1, an E3 ubiquitin ligase, modulates TDP-43 proteostasis in amyotrophic lateral sclerosis

Shirakawa et al. identify LRSAM1, an E3 ubiquitin ligase, as a regulator of TDP-43 proteostasis. LRSAM1 binds aggregation-prone C-terminal fragments of TDP

academic.oup.com
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Saturation mutagenesis enables RAD51D clinical variant interpretation and identifies distinct biochemical functions: nature.com/articles/s41467-0…

Saturation mutagenesis enables RAD51D clinical variant interpretation and identifies distinct...

Nature Communications - RAD51D is a tumor suppressor gene where pathogenic variants are associated with increased risk of breast and ovarian cancer. This study reports a high throughput functional...

nature.com
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The ALS community has lost one of its most powerful voices. Brooke Eby was diagnosed with ALS in 2022 at just 33 years old. Instead of retreating, she made a choice that changed how the world sees this disease: she shared it all, with honesty and a sense of humor that made it impossible to look away. She brought her employer Salesforce into the fight and raised more than $1 million for research. She helped build ALStogether so people with ALS could find one another. And she shared her story with the Today Show, The New York Times and People. In 2024, the ALS Association was proud to name her an ALS Hero. "Brooke made ALS impossible to ignore, and she made it impossible not to love her while she did it," said ALS Association President and CEO Calaneet Balas. Brooke died Thursday at 37. We will keep going until ALS is livable for everyone, and then cured. Read our full statement: als.org/stories-news/brooke-…
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From Human to Mouse, Tau Strains Stay True to Structure alzforum.org/news/research-n…
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In @elife: HAX1 drives assembly and activation of the mitochondrial intermembrane space chaperone CLPB doi.org/10.7554/eLife.112857…
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In @elife: Thermodynamic principles of enzymatic regulation in biomolecular condensates from reaction-coupled molecular modeling doi.org/10.7554/eLife.112417…
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The prevalence of protein misfolding as a mechanism for hereditary deafness: journals.plos.org/plosgeneti…

The prevalence of protein misfolding as a mechanism for hereditary deafness

Author summary We investigate the impacts of single amino acid changes on protein structure and folding in the context of hearing loss. Hearing loss is the most common impairment of the main senses...

journals.plos.org
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In vivo detection of pathologic α- synuclein and TDP-43 in the skin and olfactory mucosa of a patient with Parkinson’s disease-like phenotype carrying the p.Thr272Serfs*10 GRN mutation: link.springer.com/article/10…

In vivo detection of pathologic α- synuclein and TDP-43 in the skin and olfactory mucosa of a...

Molecular Neurodegeneration - We describe a patient carrying the GRN p.Thr272Serfs*10 mutation, who presented with parkinsonism at onset and later developed prodromal frontotemporal dementia, in...

link.springer.com
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Astrocytic cathepsin D promotes α-synuclein processing and Lewy neurite-like aggregate maturation: link.springer.com/article/10…

Astrocytic cathepsin D promotes α-synuclein processing and Lewy neurite-like aggregate maturation

EMBO Reports - Parkinson’s disease (PD) and related synucleinopathies are marked by the accumulation and propagation of α-synuclein (α-syn) aggregates, a process primarily studied...

link.springer.com
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Excess Met1-linked ubiquitination leads to solid aggregate formation: link.springer.com/article/10…

Excess Met1-linked ubiquitination leads to solid aggregate formation

The EMBO Journal - The ubiquitin ligase HOIL-1 regulates the formation of Met1-linked (linear) ubiquitin chains through its coordination with the E3 ligase HOIP within the Linear Ubiquitin Chain...

link.springer.com
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Mapping functional signaling landscapes across the human phosphoproteome: nature.com/articles/s41594-0…

Mapping functional signaling landscapes across the human phosphoproteome

Nature Structural & Molecular Biology - Advances in phosphoproteomics enable systems-wide mapping of phosphorylation, but translating these data into functional signaling networks remains...

nature.com
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A phosphoproteome atlas of human cell lines reveals the landscape of kinase activity: nature.com/articles/s41594-0…

A phosphoproteome atlas of human cell lines reveals the landscape of kinase activity

Nature Structural & Molecular Biology - Koenig et al. present a phosphoproteome atlas of 33 human cell lines covering >200,000 phosphosites, advancing cellular kinase activity scoring...

nature.com
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Phosphorylation tunes electrostatically driven protein-RNA interactions: nature.com/articles/s41467-0…

Phosphorylation tunes electrostatically driven protein-RNA interactions

Nature Communications - Phosphorylation can alter the charge of intrinsically disordered proteins and thereby regulate their interactions. Here, the authors show that phosphorylation acts as an...

nature.com
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Self-assembling polymers work up some nerve Micrometer-long peptide amphiphile fibrils enhance neuronal adhesion and function: science.org/doi/10.1126/scie…

Self-assembling polymers work up some nerve

Micrometer-long peptide amphiphile fibrils enhance neuronal adhesion and function

science.org
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Precise length and charge segmentation of billion-dalton supramolecular polymers: science.org/doi/10.1126/scie…

Precise length and charge segmentation of billion-dalton supramolecular polymers

Supramolecular polymers with precise micrometer-scale segments of opposite charge are challenging to synthesize as discrete assemblies in water. These systems could be used to pattern charged...

science.org
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Core physical principles of allostery: cell.com/biophysj/fulltext/S…

Core physical principles of allostery

Allostery is a basic property of proteins that represents the functional coupling of distantly positioned amino acids. In different manifestations, this property underlies signal transmission,...

cell.com
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Role of ligand-dependent conformational modulation of TNPO3 HEAT-repeat solenoid in nuclear import: cell.com/biophysj/fulltext/S…

Role of ligand-dependent conformational modulation of TNPO3 HEAT-repeat solenoid in nuclear import

Transportin-3 (TNPO3) is a HEAT-repeat nuclear transport receptor that mediates nuclear import of serine/arginine-rich (SR) proteins and interacts with Ran GTPase during nuclear transport cycle....

cell.com
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