E
Enrico Mugnaini
Researcher at Northwestern University
Publications - 70
Citations - 6350
Enrico Mugnaini is an academic researcher from Northwestern University. The author has contributed to research in topics: Cerebellum & Unipolar brush cell. The author has an hindex of 38, co-authored 70 publications receiving 5881 citations. Previous affiliations of Enrico Mugnaini include G. D. Searle & Company.
Papers
More filters
Journal ArticleDOI
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
Han Xiang Deng,Wenjie Chen,Seong-Tshool Hong,Seong-Tshool Hong,Kym M. Boycott,George Gorrie,George Gorrie,Nailah Siddique,Yi Yang,Faisal Fecto,Yong-Yong Shi,Hong Zhai,Hujun Jiang,Hujun Jiang,Makito Hirano,Makito Hirano,Evadnie Rampersaud,Gerard H. Jansen,Sandra Donkervoort,Eileen H. Bigio,Benjamin Rix Brooks,Kaouther Ajroud,Robert L. Sufit,Jonathan L. Haines,Enrico Mugnaini,Margaret A. Pericak-Vance,Teepu Siddique +26 more
TL;DR: Findings link abnormalities in ubiquilin 2 to defects in the protein degradation pathway, abnormal protein aggregation and neurodegeneration, indicating a common pathogenic mechanism that can be exploited for therapeutic intervention.
Journal ArticleDOI
Selective elimination of glutamatergic synapses on striatopallidal neurons in Parkinson disease models
Michelle Day,Zhongfeng Wang,Jun B. Ding,Xinhai An,Cali A. Ingham,Andrew F Shering,David L. Wokosin,Ema Ilijic,Zhuoxin Sun,Allan R. Sampson,Enrico Mugnaini,Ariel Y. Deutch,Susan R. Sesack,Gordon W. Arbuthnott,D. James Surmeier +14 more
TL;DR: Using multiphoton imaging, it is shown that dopamine depletion leads to a rapid and profound loss of spines and glutamatergic synapses on striatopallidal MSNs but not on neighboring striatonigral MSNs, triggered by a new mechanism—dysregulation of intraspine Cav1.3 L-type Ca2+ channels.
Journal ArticleDOI
FUS‐immunoreactive inclusions are a common feature in sporadic and non‐SOD1 familial amyotrophic lateral sclerosis
Han Xiang Deng,Hong Zhai,Eileen H. Bigio,Jianhua Yan,Faisal Fecto,Kaouther Ajroud,Manjari Mishra,Senda Ajroud-Driss,Scott Heller,Robert L. Sufit,Nailah Siddique,Enrico Mugnaini,Teepu Siddique +12 more
TL;DR: The pathogenic mechanism of the mutant FUS‐mediated ALS and potential roles of FUS in non‐FUS ALS remain to be investigated.
Journal ArticleDOI
Why do axons differ in caliber
TL;DR: Information rate may be the main variable that sets axon caliber, with axons constrained to deliver information at the lowest acceptable rate, given constraints on space and energy.
Journal ArticleDOI
The Deaf Jerker Mouse Has a Mutation in the Gene Encoding the Espin Actin-Bundling Proteins of Hair Cell Stereocilia and Lacks Espins
Lili Zheng,Gabriela Sekerková,Kelly A. Vranich,Lewis G. Tilney,Enrico Mugnaini,James R. Bartles +5 more
TL;DR: The espins are actin-bundling proteins of brush border microvilli and Sertoli cell-spermatid junctions and the connection between the espin gene and jerker, a recessive mutation that causes hair cell degeneration, deafness, and vestibular dysfunction, is uncovered.