The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.
about
A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease.Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity to regulate pH imbalance in the vacuole.Alterations in ROS activity and lysosomal pH account for distinct patterns of macroautophagy in LINCL and JNCL fibroblasts.Aberrant Ca2+ handling in lysosomal storage disordersSpectral properties and mechanisms that underlie autofluorescent accumulations in Batten disease.Multi-step preparation technique to recover multiple metabolite compound classes for in-depth and informative metabolomic analysis.Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease.Loss of lysosomal ion channel transient receptor potential channel mucolipin-1 (TRPML1) leads to cathepsin B-dependent apoptosis.Embryonic stem cell-derived neural progenitors incorporate into degenerating retina and enhance survival of host photoreceptors.Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.Neuronal pigmented autophagic vacuoles: lipofuscin, neuromelanin, and ceroid as macroautophagic responses during aging and disease.Analysis of NCL Proteins from an Evolutionary Standpoint.Advances in the diagnosis of leukoencephalopathies.15-Deoxy-Δ12,14-Prostaglandin J2 Modifies Components of the Proteasome and Inhibits Inflammatory Responses in Human Endothelial CellsNeuronal ceroid lipofuscinosis: a common pathway?Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells.Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease.Vitamin E deficiency and metabolic deficits in neuronal ceroid lipofuscinosis described by bioinformatics.Charting the effects of antioxidant therapy in the diseased brain: focus on "vitamin E deficiency and metabolic deficits in neuronal ceroid lipofuscinosis described by bioinformatics".Human and rat brain lipofuscin proteome.Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis.Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis
P2860
Q27935391-851B436A-6424-4301-81F9-669F4E7D22D3Q27936371-6B44AFF2-6832-4FAD-B600-12B98D85917BQ31110961-C24CDE77-14B4-4BC7-9640-085F1C53F8E5Q33727058-190131B6-FE9A-4E35-A206-3D62E55DDE1BQ34007905-BC1F13D9-A6BA-49BD-8C93-AD5427FE72FBQ34426998-A47AD305-73D3-4079-AD6F-981905489035Q35790328-28A89AC2-F4C7-4556-A222-4D7DED7927C4Q35868248-AB3F09AC-7CD5-4AE9-B934-FB708FC7B2BDQ36054529-4A6126DE-B2E7-4F8B-B9FD-7711AEEC2C98Q37021406-3114AF35-9D46-48DB-98A2-DE51385663EBQ37126849-F9DC9B72-873A-48DB-95FB-0F850B2AA663Q37480758-3BEFED46-B6F2-4ACC-A80E-6E001475FDA4Q38088395-C7C01DB1-2B93-4600-89B9-486D07D7C5D9Q39197422-EABF2032-7488-4EDA-8569-AB4AEACBE9BAQ40181051-1C4B7360-4448-47F1-B0D3-5FB722778AE6Q40648630-1BD0CC61-8A32-4CF7-A2D2-96DA535A2CBBQ44169549-2470D022-3B42-4FD8-B7A2-9E30E7B76C17Q44186141-ED13E923-DD9A-4D09-B37E-3717CBA44167Q48433582-359A7FDE-5C83-43DD-B538-B5F16F3ED4A4Q48469917-AE4266C4-0321-42D3-BBF9-CBF28790C1F2Q51920275-25B71C1F-5676-4A99-9437-FEAF308EAB40Q58796355-060E53E9-0E6C-49A5-B6E6-105D185B674D
P2860
The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.
description
2002 nî lūn-bûn
@nan
2002 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
The neuronal ceroid lipofuscin ...... ins result in similar disease.
@ast
The neuronal ceroid lipofuscin ...... ins result in similar disease.
@en
The neuronal ceroid lipofuscin ...... ins result in similar disease.
@nl
type
label
The neuronal ceroid lipofuscin ...... ins result in similar disease.
@ast
The neuronal ceroid lipofuscin ...... ins result in similar disease.
@en
The neuronal ceroid lipofuscin ...... ins result in similar disease.
@nl
prefLabel
The neuronal ceroid lipofuscin ...... ins result in similar disease.
@ast
The neuronal ceroid lipofuscin ...... ins result in similar disease.
@en
The neuronal ceroid lipofuscin ...... ins result in similar disease.
@nl
P2093
P356
P1476
The neuronal ceroid lipofuscin ...... ins result in similar disease.
@en
P2093
David A Pearce
Elizabeth Kriscenski-Perry
Jill M Weimer
Yasser Elshatory
P2888
P304
P356
10.1385/NMM:1:2:111
P577
2002-01-01T00:00:00Z
P6179
1006045718