Keck School Faculty

PIKFYVE inhibition mitigates disease in models of diverse forms of ALS Cell. 2023 Feb 02. . View in PubMed

SYF2 suppression mitigates neurodegeneration in models of diverse forms of ALSCell Stem Cell. 2023 Feb 02; 30(2):171-187. e14. . View in PubMed

Radiogenomics of C9orf72 Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment J Neurosci. 2023 Jan 11; 43(2):333-345. . View in PubMed

Molecular tweezers - supramolecular hosts with broad-spectrum biological applications Pharmacol Rev. 2022 Dec 22. . View in PubMed

A CRISPRi/a platform in human iPSC-derived microglia uncovers regulators of disease states Nat Neurosci. 2022 09; 25(9):1149-1162. . View in PubMed

Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS Nat Neurosci. 2022 04; 25(4):433-445. . View in PubMed

A "multi-omics" analysis of blood-brain barrier and synaptic dysfunction in APOE4 mice J Exp Med. 2022 11 07; 219(11). . View in PubMed

Repairing the blood-brain barrier Science. 2022 02 18; 375(6582):715-716. . View in PubMed

Engineering skeletal muscle tissues with advanced maturity improves synapse formation with human induced pluripotent stem cell-derived motor neurons APL Bioeng. 2021 Sep; 5(3):036101. . View in PubMed

The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease Neurobiol Dis. 2021 02; 149:105228. . View in PubMed

ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoidsCell. 2021 08 19; 184(17):4547-4563. e17. . View in PubMed

p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)Cell. 2021 02 04; 184(3):689-708. e20. . View in PubMed

Efficient Generation and Transcriptomic Profiling of Human iPSC-Derived Pulmonary Neuroendocrine Cells iScience. 2020 May 22; 23(5):101083. . View in PubMed

Organoids Develop Motor Skills: 3D Human Neuromuscular Junctions Cell Stem Cell. 2020 02 06; 26(2):131-133. . View in PubMed

Protocol for Differentiation of Human iPSCs into Pulmonary Neuroendocrine Cells STAR Protoc. 2020 09 18; 1(2):100068. . View in PubMed

Generation of inner ear hair cells by direct lineage conversion of primary somatic cells Elife. 2020 06 30; 9. . View in PubMed

Correction to: ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD Acta Neuropathol. 2019 Nov; 138(5):883-884. . View in PubMed

RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats Nat Neurosci. 2019 09; 22(9):1383-1388. . View in PubMed

ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD Acta Neuropathol. 2019 07; 138(1):49-65. . View in PubMed

A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies Stem Cell Reports. 2019 11 12; 13(5):939-955. . View in PubMed

C9ORF72 protein function and immune dysregulation in amyotrophic lateral sclerosis Neurosci Lett. 2019 11 20; 713:134523. . View in PubMed

Identification and therapeutic rescue of autophagosome and glutamate receptor defects in C9ORF72 and sporadic ALS neurons JCI Insight. 2019 07 16; 5. . View in PubMed

Endogenous Cell Type-Specific Disrupted in Schizophrenia 1 Interactomes Reveal Protein Networks Associated With Neurodevelopmental Disorders Biol Psychiatry. 2019 02 15; 85(4):305-316. . View in PubMed

Mitigating Antagonism between Transcription and Proliferation Allows Near-Deterministic Cellular ReprogrammingCell Stem Cell. 2019 10 03; 25(4):486-500. e9. . View in PubMed

Directly Reprogrammed Neurons Still Have Some Growing Up to Do Cell Stem Cell. 2019 07 03; 25(1):1-2. . View in PubMed

CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity Nat Genet. 2018 04; 50(4):603-612. . View in PubMed

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons Nat Med. 2018 03; 24(3):313-325. . View in PubMed

Comparative genomic analysis of embryonic, lineage-converted and stem cell-derived motor neurons Development. 2018 11 21; 145(22). . View in PubMed

Human Induced Pluripotent Stem Cell-Derived Motor Neuron Transplant for Neuromuscular Atrophy in a Mouse Model of Sciatic Nerve Injury JAMA Facial Plast Surg. 2017 May 01; 19(3):197-205. . View in PubMed

New approaches for direct conversion of patient fibroblasts into neural cells Brain Res. 2017 02 01; 1656:2-13. . View in PubMed

Neuroleptics as therapeutic compounds stabilizing neuromuscular transmission in amyotrophic lateral sclerosis JCI Insight. 2017 11 16; 2(22). . View in PubMed

Iroquois Proteins Promote Skeletal Joint Formation by Maintaining Chondrocytes in an Immature State Dev Cell. 2015 Nov 09; 35(3):358-65. . View in PubMed

Small Molecules Take a Big Step by Converting Fibroblasts into Neurons Cell Stem Cell. 2015 Aug 06; 17(2):127-9. . View in PubMed

Nat Neurosci. 2015 Jul; 18(7):978-87. . View in PubMed

Probing disorders of the nervous system using reprogramming approaches EMBO J. 2015 Jun 03; 34(11):1456-77. . View in PubMed

Motoneurons derived from induced pluripotent stem cells develop mature phenotypes typical of endogenous spinal motoneurons J Neurosci. 2015 Jan 21; 35(3):1291-306. . View in PubMed

Modeling pain in vitro using nociceptor neurons reprogrammed from fibroblasts Nat Neurosci. 2015 Jan; 18(1):17-24. . View in PubMed

Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death Neuron. 2014 Dec 17; 84(6):1213-25. . View in PubMed

Notch inhibition allows oncogene-independent generation of iPS cells Nat Chem Biol. 2014 Aug; 10(8):632-639. . View in PubMed

Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1 Cell Stem Cell. 2014 Jun 05; 14(6):781-95. . View in PubMed

Ketamine exposure in early development impairs specification of the primary germ cell layers Neurotoxicol Teratol. 2014 May-Jun; 43:59-68. . View in PubMed

Nanog-independent reprogramming to iPSCs with canonical factors Stem Cell Reports. 2014 Feb 11; 2(2):119-26. . View in PubMed

Derivation of induced pluripotent stem cells from the baboon: a nonhuman primate model for preclinical testing of stem cell therapies Cell Reprogram. 2013 Dec; 15(6):495-502. . View in PubMed

CLP1 links tRNA metabolism to progressive motor-neuron loss Nature. 2013 Mar 28; 495(7442):474-80. . View in PubMed

Reprogramming within hours following nuclear transfer into mouse but not human zygotes Nat Commun. 2011 Oct 04; 2:488. . View in PubMed

Conversion of mouse and human fibroblasts into functional spinal motor neurons Cell Stem Cell. 2011 Sep 02; 9(3):205-18. . View in PubMed

Shushing down the epigenetic landscape towards stem cell differentiation Development. 2010 Aug 01; 137(15):2455-60. . View in PubMed

Effect of stalling after mismatches on the error catastrophe in nonenzymatic nucleic acid replication J Am Chem Soc. 2010 Apr 28; 132(16):5880-5. . View in PubMed

A small-molecule inhibitor of tgf-Beta signaling replaces sox2 in reprogramming by inducing nanog Cell Stem Cell. 2009 Nov 06; 5(5):491-503. . View in PubMed

Elucidating nuclear reprogramming mechanisms: taking a synergistic approach Reprod Biomed Online. 2008 Jan; 16(1):41-50. . View in PubMed