Janani Parameswaran
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Explore the profile of Janani Parameswaran including associated specialties, affiliations and a list of published articles.
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10
Citations
276
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Recent Articles
1.
Pant D, Lone M, Parameswaran J, Ma F, Dutta P, Wang Z, et al.
bioRxiv
. 2025 Mar;
PMID: 40027730
Mutations in the human gene have recently been linked to early onset amyotrophic lateral sclerosis (ALS), characterized by global atrophy, motor impairments, and symptoms such as tongue fasciculations. All known...
2.
Launay N, Lopez-Erauskin J, Bianchi P, Guha S, Parameswaran J, Coppa A, et al.
Brain
. 2024 May;
147(6):2069-2084.
PMID: 38763511
The peroxisomal disease adrenoleukodystrophy (X-ALD) is caused by loss of the transporter of very-long-chain fatty acids (VLCFAs), ABCD1. An excess of VLCFAs disrupts essential homeostatic functions crucial for axonal maintenance,...
3.
Parameswaran J, Zhang N, Braems E, Tilahun K, Pant D, Yin K, et al.
Elife
. 2023 Apr;
12.
PMID: 37073950
GGGGCC (GC) hexanucleotide repeat expansion in the gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The repeat is bidirectionally transcribed and confers...
4.
Parameswaran J, Goicoechea L, Planas-Serra L, Pastor A, Ruiz M, Calingasan N, et al.
Acta Neuropathol
. 2022 Jul;
144(2):241-258.
PMID: 35778568
Aberrant endocannabinoid signaling accompanies several neurodegenerative disorders, including multiple sclerosis. Here, we report altered endocannabinoid signaling in X-linked adrenoleukodystrophy (X-ALD), a rare neurometabolic demyelinating syndrome caused by malfunction of the...
5.
Pant D, Parameswaran J, Rao L, Loss I, Chilukuri G, Parlato R, et al.
EMBO Rep
. 2022 Jun;
23(8):e54234.
PMID: 35735139
Mutations in the human kinesin family member 5A (KIF5A) gene were recently identified as a genetic cause of amyotrophic lateral sclerosis (ALS). Several KIF5A ALS variants cause exon 27 skipping...
6.
McEachin Z, Parameswaran J, Raj N, Bassell G, Jiang J
Neurobiol Dis
. 2020 Aug;
145:105055.
PMID: 32829028
A GGGGCC hexanucleotide repeat expansion in the first intron of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Compelling evidence suggests that gain of...
7.
Fourcade S, Goicoechea L, Parameswaran J, Schluter A, Launay N, Ruiz M, et al.
Brain Pathol
. 2020 Jun;
30(5):945-963.
PMID: 32511826
Biotin is an essential cofactor for carboxylases that regulates the energy metabolism. Recently, high-dose pharmaceutical-grade biotin (MD1003) was shown to improve clinical parameters in a subset of patients with chronic...
8.
Coppa A, Guha S, Fourcade S, Parameswaran J, Ruiz M, Moser A, et al.
Free Radic Biol Med
. 2020 Feb;
152:797-809.
PMID: 32017990
Adrenoleukodystrophy is a neurometabolic disorder caused by a defective peroxisomal ABCD1 transporter of very long-chain fatty acids (VLCFAs). Its pathogenesis is incompletely understood. Here we characterize a nematode model of...
9.
Kim H, Lim J, Bao H, Jiao B, Min Canon S, Epstein M, et al.
Hum Mol Genet
. 2019 Apr;
28(14):2309-2318.
PMID: 30985904
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterized by progressive muscular atrophy and respiratory failure. The G4C2 repeat expansion in the C9orf72 gene is the most prevalent genetic...
10.
di Domenico A, Carola G, Calatayud C, Pons-Espinal M, Munoz J, Richaud-Patin Y, et al.
Stem Cell Reports
. 2019 Jan;
12(2):213-229.
PMID: 30639209
Parkinson's disease (PD) is associated with the degeneration of ventral midbrain dopaminergic neurons (vmDAns) and the accumulation of toxic α-synuclein. A non-cell-autonomous contribution, in particular of astrocytes, during PD pathogenesis...