Piera Pasinelli
Overview
Explore the profile of Piera Pasinelli including associated specialties, affiliations and a list of published articles.
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43
Citations
2730
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Recent Articles
11.
Jensen B, Schuldi M, McAvoy K, Russell K, Boehringer A, Curran B, et al.
EMBO Mol Med
. 2020 Apr;
12(5):e10722.
PMID: 32347002
The most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is an intronic hexanucleotide repeat expansion in the C9orf72 gene. In disease, RNA transcripts containing this expanded...
12.
Casci I, Krishnamurthy K, Kour S, Tripathy V, Ramesh N, Anderson E, et al.
Nat Commun
. 2019 Dec;
10(1):5583.
PMID: 31811140
Mutations in fused in sarcoma (FUS) lead to amyotrophic lateral sclerosis (ALS) with varying ages of onset, progression and severity. This suggests that unknown genetic factors contribute to disease pathogenesis....
13.
Charsar B, Brinton M, Locke K, Chen A, Ghosh B, Urban M, et al.
FASEB J
. 2019 Oct;
33(12):13775-13793.
PMID: 31577916
More than half of spinal cord injury (SCI) cases occur in the cervical region, leading to respiratory dysfunction due to damaged neural circuitry that controls critically important muscles such as...
14.
Mohamed L, Markandaiah S, Bonanno S, Pasinelli P, Trotti D
Exp Neurol
. 2019 Apr;
316:27-38.
PMID: 30974102
In amyotrophic lateral sclerosis (ALS), upregulation in expression and activity of the ABC transporter P-glycoprotein (P-gp) driven by disease advancement progressively reduces CNS penetration and efficacy of the ALS drug,...
15.
Repeat-associated non-AUG translation in C9orf72-ALS/FTD is driven by neuronal excitation and stress
Westergard T, McAvoy K, Russell K, Wen X, Pang Y, Morris B, et al.
EMBO Mol Med
. 2019 Jan;
11(2).
PMID: 30617154
Nucleotide repeat expansions (NREs) are prevalent mutations in a multitude of neurodegenerative diseases. Repeat-associated non-AUG (RAN) translation of these repeat regions produces mono or dipeptides that contribute to the pathogenesis...
16.
Kia A, McAvoy K, Krishnamurthy K, Trotti D, Pasinelli P
Glia
. 2018 Jan;
66(5):1016-1033.
PMID: 29380416
Mutations in fused in sarcoma (FUS) are linked to amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease affecting both upper and lower motor neurons. While it is established that astrocytes...
17.
Mohamed L, Markandaiah S, Bonanno S, Pasinelli P, Trotti D
AAPS J
. 2017 Aug;
19(6):1600-1614.
PMID: 28779378
The blood-brain barrier (BBB) is essential for proper neuronal function, homeostasis, and protection of the central nervous system (CNS) microenvironment from blood-borne pathogens and neurotoxins. The BBB is also an...
18.
Rosenblum L, Shamamandri-Markandaiah S, Ghosh B, Foran E, Lepore A, Pasinelli P, et al.
Exp Neurol
. 2017 Mar;
292:145-153.
PMID: 28342750
Downregulation in the astroglial glutamate transporter EAAT2 in amyotrophic lateral sclerosis (ALS) patients and mutant SOD1 mouse models of ALS is believed to contribute to the death of motor neurons...
19.
Westergard T, Jensen B, Wen X, Cai J, Kropf E, Iacovitti L, et al.
Cell Rep
. 2016 Oct;
17(3):645-652.
PMID: 27732842
Aberrant hexanucleotide repeat expansions in C9orf72 are the most common genetic change underlying amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). RNA transcripts containing these expansions undergo repeat-associated non-ATG translation...
20.
Wen X, Westergard T, Pasinelli P, Trotti D
Neurosci Lett
. 2016 Sep;
636:16-26.
PMID: 27619540
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two apparently distinct neurodegenerative diseases, the former characterized by selective loss of motor neurons in the brain and spinal cord and...