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ceroid lipofuscinosis, neuronal
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ATP13A2
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
PPT1
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
CTSD
Cathepsin D inactivates cysteine proteinase inhibitors, cystatins
Oestrogen regulates cathepsin D mRNA levels in oestrogen responsive human breast cancer cells
Ubiquitous presence of calciferin-like and cathepsin D-like activities in the sera (vertebrates) and humoral fluids (invertebrates)
Differences in domain structure between human fibronectins isolated from plasma and from culture supernatants of normal and transformed fibroblasts. Studies with domain-specific antibodies
Cathepsin D and beta-hexosaminidase synthesized in the presence of 1-deoxynojirimycin accumulate in the endoplasmic reticulum
Processing of the pre-beta-amyloid protein by cathepsin D is enhanced by a familial Alzheimer's disease mutation
GRN
The neuropathology and clinical phenotype of FTD with progranulin mutations.
Progranulin and frontotemporal lobar degeneration.
Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains.
CTSF
Molecular cloning and structural and functional characterization of human cathepsin F, a new cysteine proteinase of the papain family with a long propeptide domain
TPP1
The molecular genetic basis of the neuronal ceroid lipofuscinoses
Intravitreal implantation of TPP1-transduced stem cells delays retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5
CLN3
CLN3, the protein associated with batten disease: structure, function and localization
DNAJC5
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis
A cysteine-string protein is expressed in retina and brain of Drosophila
CLN5
Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22
CLN6
The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein
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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