Weihl Lab
@LabWeihl
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Conrad "Chris" Weihl lab | Washington University School of Medicine | Focusing on Protein Aggregation in Myopathies and Neurodegenerative diseases
St. Louis, MO
Joined January 2020
RT @WashUNeurology: There has never been a more exciting time to pursue a career in Neuromuscular Medicine! Our Neuromuscle fellowship offe….
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Very nice excited this paper is out. It reveals the power of human genetics to understand molecular mechanism. Thanks to our collaborators. @WashUNeurology @TNRLab @CureVCPDisease.
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An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP: The American Journal of Human Genetics
cell.com
Valosin-containing protein (VCP) is an ATPase that assists in cellular recycling pathways. Pathogenic variants in VCP are associated with adult-onset multisystem proteinopathy (MSP), affecting the...
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RT @WUSTLmed: Congratulations to our three #WashUMed faculty members elected to the National Academy of Medicine: Michael S. Avidan, MBBCh,….
medicine.washu.edu
Membership is one of highest U.S. honors in health and medicine
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RT @CureCalpain3: C3 awarded a Travel Grant to Dr. Stephanie Hunn, Washington University School of Medicine. Dr. Hunn, a member of @LabWeih….
curecalpain3.org
Dr. Hunn presents her work at the Annual Congress of the World Muscle Society Coalition to Cure Calpain 3 (C3) is pleased to announce that Stephanie Hunn DPT was awarded a Travel Grant for the pres…
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RT @WashUNeurology: Diagnosis of rare, genetic muscle disease improved by new approach.#WashUMed researchers have developed an approach tha….
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RT @MaliRamanLab: New pre-print from the lab! We performed quantitative proteomics in iPSC-derived motor neurons with p97 R155H mutation t….
biorxiv.org
Mutations in the AAA+ ATPase p97 (also known as valosin containing protein, VCP) cause multisystem proteinopathy 1 (MSP-1) which includes amyotrophic-lateral sclerosis (ALS); however, the pathogenic...
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RT @ToshifumiYokota: Morpholino antisense oligos show potential in selectively reducing DNAJB6b isoform levels, correcting disease-related….
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RT @TLiewluck: A patient from Charleston, SC gave me a list of his favorite restaurants when he learned that I will be attending the #WMS20….
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RT @YSPTSPS: @DavidWSanders2 @JasonSynaptic indeed a very great paper but also where are all your suggestions ?.
pubmed.ncbi.nlm.nih.gov
Prion-like propagation of tau aggregation might underlie the stereotyped progression of neurodegenerative tauopathies. True prions stably maintain unique conformations ("strains") in vivo that link...
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RT @neurology_live: Timothy Miller, MD, PhD, discussed tofersen’s impact on SOD1 protein and neurofilament light, as well as the need to in….
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RT @MarcoSavareseIT: Unsolved cases of fetuses or newborns with bone, heart and muscle anomalies? Check Titin #titin #medicalgenetics #rese….
medrxiv.org
Background Titin truncating variants (TTNtv) have been associated with several forms of myopathies and/or cardiomyopathies. In homozygosity or in compound heterozygosity they cause a wide spectrum of...
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RT @EllenMowryMD: So proud of these amazing young physician scientists investigating how racism manifests in the clinic (Drs. Mysti Harriso….
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RT @1capplegate: I have a very important ceremony coming up. This will be my first time out since diagnosed with MS. Walking sticks are now….
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RT @Solve_RD: 📢Conrad Weihl @LabWeihl @WUSTLmed, Ana Töpf & @VolkerWStraub @jwmdrc et al. just published their collaborative work in Acta N….
pubmed.ncbi.nlm.nih.gov
DNAJ/HSP40 co-chaperones are integral to the chaperone network, bind client proteins and recruit them to HSP70 for folding. We performed exome sequencing on patients with a presumed hereditary muscle...
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Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure Just out. great collaboration. @doctrue2 @BhadraAnkan @Gianina_Natoli @VolkerWStraub. Continually amazed how human genetics informs mechanism.
pubmed.ncbi.nlm.nih.gov
DNAJ/HSP40 co-chaperones are integral to the chaperone network, bind client proteins and recruit them to HSP70 for folding. We performed exome sequencing on patients with a presumed hereditary muscle...
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RT @BonneGisele: Young Myologist of the Year @WorldMuscleSoc #WMS2022 @SGorokhova @Myologie_MMG well deserved award congratulation !….
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RT @CureCalpain3: Stephanie Poelker from Washington University in St. Louis presents her poster showing baseline data from LGMD2A patients….
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RT @SGorokhova: An important advance for LGMD diagnostics - Chris Weihl @LabWeihl (@WUSTLmed) used deep mutational scanning combined with h….
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