K E Wisniewski
Overview
Explore the profile of K E Wisniewski including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
94
Citations
1636
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Gupta P, Soyombo A, Atashband A, Wisniewski K, Shelton J, Richardson J, et al.
Proc Natl Acad Sci U S A
. 2001 Nov;
98(24):13566-71.
PMID: 11717424
PPT1 and PPT2 encode two lysosomal thioesterases that catalyze the hydrolysis of long chain fatty acyl CoAs. In addition to this function, PPT1 (palmitoyl-protein thioesterase 1) hydrolyzes fatty acids from...
2.
Golabek A, Kida E, Walus M, Kaczmarski W, Wujek P, Wisniewski K
Eur J Paediatr Neurol
. 2001 Oct;
5 Suppl A:81-8.
PMID: 11589014
Although the CLN3 gene associated with the disease process in subjects with the juvenile form of neuronal ceroid lipofuscinosis was discovered in 1995, our knowledge of the physiological function of...
3.
Wisniewski K, Kida E, Walus M, Wujek P, Kaczmarski W, Golabek A
Eur J Paediatr Neurol
. 2001 Oct;
5 Suppl A:73-9.
PMID: 11589013
The classic late infantile form of neuronal ceroid lipofuscinosis (CLN2, cLINCL) is associated with mutations in the gene encoding tripeptidyl-peptidase I (TPP-I), a lysosomal aminopeptidase that cleaves off tripeptides from...
4.
Hofmann S, Das A, Lu J, Wisniewski K, Gupta P
Eur J Paediatr Neurol
. 2001 Oct;
5 Suppl A:47-51.
PMID: 11589007
The neuronal ceroid lipofuscinoses (NCLs) are a group of enigmatic neurodegenerative disorders of children that have in common the storage of autofluorescent lipofuscin, or aging pigment, in the brain. With...
5.
Philippart M, Mena I, Wisniewski K, Pineda G
Eur J Paediatr Neurol
. 2001 Oct;
5 Suppl A:185-7.
PMID: 11588994
A 5-year-old boy presented with frequent absences. Speech began to regress. He became ataxic, barely able to walk. Studies with Xe-133 and hexamethylpropylene amine oxime single-photon emission computed tomography revealed...
6.
Wisniewski K, Zhong N, Philippart M
Neurology
. 2001 Sep;
57(4):576-81.
PMID: 11548735
The neuronal ceroid lipofuscinoses (NCL) are a large group of autosomal recessive lysosomal storage disorders with both enzymatic deficiency and structural protein dysfunction. Previously, diagnosis of NCL was based on...
7.
Zhong N, Moroziewicz D, Ju W, Jurkiewicz A, Johnston L, Wisniewski K, et al.
Genet Med
. 2001 May;
2(6):312-8.
PMID: 11339651
Purpose: Late-infantile neuronal ceroid lipofuscinosis (LINCL), an autosomal recessively inherited lysosomal storage disorder characterized by autofluorescent inclusions and rapid progression of neurodegeneration, is due to CLN2 gene mutations. However, CLN2...
8.
Kida E, Golabek A, Wisniewski K
Adv Genet
. 2001 May;
45:35-68.
PMID: 11332776
Lysosomal accumulation of autofluorescent, ceroid lipopigment material in various tissues and organs is a common feature of the neuronal ceroid lipofuscinoses (NCLs). However, recent clinicopathologic and genetic studies have evidenced...
9.
Zhong N, Wisniewski K
Adv Genet
. 2001 May;
45:217-24.
PMID: 11332775
Currently, no treatment is available for neuronal ceroid lipofuscinoses. The progress of human genome project will stimulate molecular cloning of unidentified genes underlying the NCLs, which will lead eventually clinical...
10.
Wisniewski K, Kida E, Golabek A, Kaczmarski W, Connell F, Zhong N
Adv Genet
. 2001 May;
45:1-34.
PMID: 11332767
The neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative disorders characterized by accumulation of ceroid lipopigment in lysosomes in various tissues and organs. The childhood forms of the NCLs represent the most...