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ceroid lipofuscinosis, neuronal
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ATP13A2
Characterization of the P5 subfamily of P-type transport ATPases in mice
PPT1
Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis
CTSD
Another disorder finds its gene
Two crystal structures for cathepsin D: the lysosomal targeting signal and active site
Human cathepsin D
In vitro degradation of extracellular matrix with Mr 52,000 cathepsin D secreted by breast cancer cells
Endosomal proteolysis of internalized insulin at the C-terminal region of the B chain by cathepsin D
Conformational switching in an aspartic proteinase
GRN
E3 ubiquitin ligase SIAH1 mediates ubiquitination and degradation of TRB3
Progranulin: normal function and role in neurodegeneration.
Autocrine growth factor revisited: PC-cell-derived growth factor (progranulin), a critical player in breast cancer tumorigenesis.
CTSF
Human cathepsin F. Molecular cloning, functional expression, tissue localization, and enzymatic characterization
TPP1
Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase
The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH
Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis
CLN3
CLN3p impacts galactosylceramide transport, raft morphology, and lipid content
DNAJC5
Cysteine string protein interacts with and modulates the maturation of the cystic fibrosis transmembrane conductance regulator
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis
CLN5
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses
CLN6
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23
MFSD8
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
CLN8
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
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Fatty acid elongation
Homo sapiens (human)
one gene
Cancer Gene Census
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Clinical Trials
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External
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
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