Cathleen Lutz
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Explore the profile of Cathleen Lutz including associated specialties, affiliations and a list of published articles.
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50
Citations
1581
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Recent Articles
1.
Presa M, Bailey R, Ray S, Bailey L, Tata S, Murphy T, et al.
Commun Med (Lond)
. 2025 Jan;
5(1):29.
PMID: 39870870
Background: Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease....
2.
Presa M, Pham V, Ray S, Piec P, Ryan J, Billings T, et al.
Commun Med (Lond)
. 2024 Oct;
4(1):215.
PMID: 39448727
Background: Multiple Sulfatase Deficiency (MSD) is an ultra-rare autosomal recessive disorder characterized by deficient enzymatic activity of all known sulfatases. MSD patients frequently carry two loss of function mutations in...
3.
Baker C, Duso D, Kothapalli N, Hart T, Casey S, Cookenham T, et al.
Sci Rep
. 2024 Oct;
14(1):25147.
PMID: 39448712
Mutations in SARS-CoV-2 variants of concern (VOCs) have expanded the viral host range beyond primates, and a few other mammals, to mice, affording the opportunity to exploit genetically diverse mouse...
4.
Agca Y, Amos-Landgraf J, Araiza R, Brennan J, Carlson C, Ciavatta D, et al.
Mamm Genome
. 2024 Sep;
35(4):524-536.
PMID: 39304538
Now in its 25th year, the Mutant Mouse Resource and Research Center (MMRRC) consortium continues to serve the United States and international biomedical scientific community as a public repository and...
5.
Pham V, Tricoli L, Hong X, Wongkittichote P, Castruccio Castracani C, Guerra A, et al.
Mol Ther
. 2024 Aug;
32(11):3829-3846.
PMID: 39169621
Multiple sulfatase deficiency (MSD) is a severe, lysosomal storage disorder caused by pathogenic variants in the gene SUMF1, encoding the sulfatase modifying factor formylglycine-generating enzyme. Patients with MSD exhibit functional...
6.
Baker C, Duso D, Kothapalli N, Hart T, Casey S, Cookenham T, et al.
Res Sq
. 2024 Aug;
PMID: 39149485
Mutations in SARS-CoV-2 variants of concern (VOCs) have expanded the viral host range beyond primates, and a limited range of other mammals, to mice, affording the opportunity to exploit genetically...
7.
Pera M, Greene A, Cardon L, Carter G, Chesler E, Churchill G, et al.
Nat Biotechnol
. 2024 Aug;
42(8):1175-1177.
PMID: 39143158
No abstract available.
8.
Dumont B, Gatti D, Ballinger M, Lin D, Phifer-Rixey M, Sheehan M, et al.
PLoS Genet
. 2024 Apr;
20(4):e1011228.
PMID: 38598567
The laboratory mouse has served as the premier animal model system for both basic and preclinical investigations for over a century. However, laboratory mice capture only a subset of the...
9.
Funes S, Jung J, Gadd D, Mosqueda M, Zhong J, Shankaracharya , et al.
Nat Commun
. 2024 Mar;
15(1):2497.
PMID: 38509062
Microglia play a pivotal role in neurodegenerative disease pathogenesis, but the mechanisms underlying microglia dysfunction and toxicity remain to be elucidated. To investigate the effect of neurodegenerative disease-linked genes on...
10.
Chang J, Ryan M, Stark M, Liu S, Purushothaman P, Bolan F, et al.
Mol Ther Methods Clin Dev
. 2024 Feb;
32(1):101193.
PMID: 38352270
Friedreich's ataxia (FRDA) is an autosomal-recessive disorder primarily attributed to biallelic GAA repeat expansions that reduce expression of the mitochondrial protein frataxin (FXN). FRDA is characterized by progressive neurodegeneration, with...