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BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly
Bardet-Biedl syndrome (BBS) is a human genetic disorder resulting in obesity, retinal degeneration, polydactyly, and nephropathy. Recent studies indicate that trafficking defects to the ciliaryExpand
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Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome*
Background: Bardet-Biedl syndrome proteins form a complex known as the BBSome. The details of BBSome assembly are unknown. Results: The BBSome is assembled via intrinsic protein-protein interactions,Expand
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A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened
Many signaling proteins including G protein-coupled receptors localize to primary cilia, regulating cellular processes including differentiation, proliferation, organogenesis, and tumorigenesis.Expand
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ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting
Mutations affecting ciliary components cause a series of related genetic disorders in humans, including nephronophthisis (NPHP), Joubert syndrome (JBTS), Meckel-Gruber syndrome (MKS), andExpand
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Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling
Obesity is a major public health problem in most developed countries and a major risk factor for diabetes and cardiovascular disease. Emerging evidence indicates that ciliary dysfunction canExpand
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Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.
Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterized by many features, including obesity and cardiovascular disease. We previously developed knockout mouse models of 3 BBSExpand
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Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes
Bardet-Biedl syndrome (BBS) is a heterogeneous disorder characterized by obesity, retinopathy, polydactyly, and congenital anomalies. The incidence of hypertension and diabetes are also increased inExpand
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BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes
There are numerous genes for which loss-of-function mutations do not produce apparent phenotypes even though statistically significant quantitative changes to biological pathways are observed. ToExpand
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Abnormal development of NG2+PDGFRα+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model
Hydrocephalus is a common neurological disorder that leads to expansion of the cerebral ventricles and is associated with a high rate of morbidity and mortality. Most neonatal cases are of unknownExpand
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Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndrome
Significance The photoreceptor outer segment (OS) is a cellular compartment that senses light in the eye. Structural and functional defects in the OS are common causes of inherited blindness.Expand
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